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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics

Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia (Hardcover, 1st ed. 2021): M. Eda... Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia (Hardcover, 1st ed. 2021)
M. Eda Ertorer
R3,630 Discovery Miles 36 300 Ships in 10 - 15 working days

This book covers all forms of Congenital Adrenal Hyperplasia (CAH) and provides a comprehensive overview of accompanying reproductive problems. Affected individuals may exhibit low fecundability, infertility, recurrent miscarriages, painful sexual intercourse, sexual orientation changes, etc. If not diagnosed and treated properly, their children may also experience developmental disorders of the external genitalia. Depending on the defects in enzymes, severity of the mutations and residual enzymatic activities, the clinical presentation may differ from patient to patient. As these disorders are encountered relatively rarely, many cases are either undiagnosed or inappropriately treated. Given its scope, this book offers a valuable guide for gynecologists, endocrinologists, pediatricians, and professionals in reproductive medicine, as well as GPs, practicing physicians, medical students and residents.

Molecular Chaperones in Human Disorders, Volume 114 (Hardcover): Rossen Donev Molecular Chaperones in Human Disorders, Volume 114 (Hardcover)
Rossen Donev
R3,391 Discovery Miles 33 910 Ships in 12 - 17 working days

Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin repair, the balance between chromosomal repair pathways, tumorigenesis, immune signaling and infection-induced inflammation. Chapters in this new release cover Functional principles and regulation of molecular chaperones, Chaperones and retinal disorders, Protein misfolding and degradation in genetic diseases, Chaperone dysfunction in hereditary myopathic diseases, Diseases caused by functional disorder of molecular chaperones residing in the endoplasmic reticulum, and many other timely topics.

Genetic Analysis of Complex Diseases, Third Edition (Paperback, 3rd Edition): W. K. Scott Genetic Analysis of Complex Diseases, Third Edition (Paperback, 3rd Edition)
W. K. Scott
R3,136 Discovery Miles 31 360 Ships in 12 - 17 working days

The Genetic Analysis of Complex Disease provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human complex genetic disease. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human complex genetic disease. This updated third edition includes a new chapter on next-generation sequencing, copy-number variants and epigenetic analysis, increased emphasis on bioinformatics tools, and a new expanded chapter on complex genetic interactions.

DNA Is Not Destiny - The Remarkable, Completely Misunderstood Relationship between You and Your Genes (Paperback): Steven J.... DNA Is Not Destiny - The Remarkable, Completely Misunderstood Relationship between You and Your Genes (Paperback)
Steven J. Heine
R413 Discovery Miles 4 130 Ships in 12 - 17 working days

Around 250,000 people have had their genomes sequenced and scientists expect that number to rise to one billion by 2025. Steven J. Heine argues that the first thing we will do on receiving our DNA test results is to misinterpret them completely. In DNA Is Not Destiny, Heine shares his research to not only show what your genes can tell you about your health, intelligence, ethnic identity and family but also highlight the psychological biases that make us so vulnerable to the media hype. Heine's fresh, surprising conclusions about the promise, and limits, of genetic engineering and DNA testing upend conventional thinking and reveal a simple, profound truth: your genes create life-but they do not control it.

Non-coding RNAs in Cardiovascular Diseases (Paperback, 1st ed. 2020): Junjie Xiao Non-coding RNAs in Cardiovascular Diseases (Paperback, 1st ed. 2020)
Junjie Xiao
R4,483 Discovery Miles 44 830 Ships in 10 - 15 working days

This book presents the latest research on non-coding RNAs in cardiovascular disease, a major cause of death worldwide. Non-coding RNAs play a significant role in development, proliferation, differentiation and apoptosis. Since altered non-coding RNA expression is often associated with various diseases, their potential use in diagnostics, prognostics and therapeutics is an important current area of study. The book consists of six parts: 1) An overview of non-coding RNAs and cardiovascular system, 2) Bioinformatics and interactions, 3) Non-coding RNA regulation in cardiovascular system, 4) Non-coding RNAs and cardiovascular diseases, 5) Potential biomarkers and therapeutic implications, 6) Future prospects. It is particularly useful for researchers and students in the field of non-coding RNA and cardiovascular biology, as well as for cardiologists, pharmacologists and physiologists.

Epitranscriptomics - Methods and Protocols (Hardcover, 1st ed. 2019): Narendra Wajapeyee, Romi Gupta Epitranscriptomics - Methods and Protocols (Hardcover, 1st ed. 2019)
Narendra Wajapeyee, Romi Gupta
R4,497 Discovery Miles 44 970 Ships in 10 - 15 working days

This volume provides readers with the latest technologies to study changes in the epitranscriptome. The protocols described in this book explore both targeted and unbiased high-throughput analysis associated with post-transcriptional RNA modification. The chapters in this book also cover specific topics such as transcriptome-wide detection of 5-methylcytosine; HAMR; iRNA-2OM; genome-wide annotation of circRNAs; immune-northern blotting; and detection and quantification of pseudouridine in RNA. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and comprehensive, Epitranscriptomics: Methods and Protocols is an important resource for both expert and novice scientists who are interested in learning more about this field.

Cancer Disparities, Volume 133 (Hardcover): Marvella E. Ford, Dennis K. Watson Cancer Disparities, Volume 133 (Hardcover)
Marvella E. Ford, Dennis K. Watson
R3,834 Discovery Miles 38 340 Ships in 12 - 17 working days

Cancer Disparities, the latest in the Advances in Cancer Research series, provides invaluable information on the exciting and fast-moving field of cancer research. This latest volume presents a broad introduction to a spectrum of factors contributing to cancer disparities that include ancestral informative markers' role in properly identifying race based on genetic ancestry, basic biological pathways contributing to cancer disparities, epidemiological factors linked to cancer disparities, and social/behavioral factors influencing cancer disparities.

Translating Epigenetics to the Clinic (Hardcover): Jeffrey Laurence Translating Epigenetics to the Clinic (Hardcover)
Jeffrey Laurence
R2,053 R1,891 Discovery Miles 18 910 Save R162 (8%) Ships in 12 - 17 working days

Translating Epigenetics to the Clinic reviews current methodological tools and experimental approaches used by leading translational researchers seeking to use epigenetics as a clinical model. It organizes epigenetics into disease treatment areas with a major focus on oncology, and with much coverage of pervasive treatment categories such as diabetes, as well as the 'diseases of modernity'-including pharmacological addiction, dementia, and ageing. Pedagogically, the work concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. The book promotes cross-disciplinary communication between the sub-specialties of medicine. In common with the rest of the books in Translational Medicine, the book remains unified in theme by emphasizing recent innovations, critical barriers to progress, and the new tools being used to overcome them. Also includes specific areas of research that require additional study to advance the field as a whole.

The Practical Guide to the Genetic Family History 2e (Paperback, 2nd Edition): RL Bennett The Practical Guide to the Genetic Family History 2e (Paperback, 2nd Edition)
RL Bennett
R1,850 Discovery Miles 18 500 Ships in 12 - 17 working days

Helps you develop and assess pedigrees to make diagnoses, evaluate risk, and counsel patients

The "Second Edition of The Practical Guide to the Genetic Family History" not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.

Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this "Second Edition" presents the latest information and methods for preparing and assessing a pedigree, including:

Value and utility of a thorough medical-family history

Directed questions to ask when developing a medical-family history for specific disease conditions

Use of pedigrees to identify individuals with an increased susceptibility to cancer

Verification of family medical information

Special considerations when adoptions or gamete donors are involved

Ethical issues that may arise in recording a pedigree

Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved.

This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

Tumor Microenvironment - The Main Driver of Metabolic Adaptation (Hardcover, 1st ed. 2020): Jacinta Serpa Tumor Microenvironment - The Main Driver of Metabolic Adaptation (Hardcover, 1st ed. 2020)
Jacinta Serpa
R4,818 Discovery Miles 48 180 Ships in 10 - 15 working days

The way a cell undergoes malignant transformation should meet their capacity of surviving in the microenvironment of the organ where the cancer will develop. Metabolic adaptation is for sure one of the criteria that must be accomplished, driven by metabolic plasticity that allows the adaptation of cancer cells to the availability of energy and biomass sources that will sustain cell survival and proliferation. Each human organ has a particular microenvironment which depends on several cell types and in some cases also on symbiotic microorganisms. These biological partners are constantly sharing organic compounds and signaling molecules that will control mitogenesis, cell death and differentiation, accounting for the organ's function. Nevertheless, cancer cells are capable of taking advantage of this metabolic and signaling microenvironmental dynamics.In this book, we intend to present the different components of the microenvironment driving the metabolic fitness of cancer cells. The metabolic changes required for establishing a tumor in a given microenvironment and how these metabolic changes limit the response to drugs will generally be the major items addressed. It is important to mention not only aspects of the microenvironment that stimulate metabolic changes and that select better adapted tumor cells, but also how this regulation of cell plasticity is made. Thus, the signaling pathways that orchestrate and are orchestrated throughout this panoply of metabolic rearrangements will also be addressed in this book. The subjects will be presented from the conceptual point of view of the cross-cancer mechanisms and also particularizing some models that can be examples and enlightening within the different areas.

Progress and Challenges in Precision Medicine (Paperback): Mukesh Verma, Debmalya Barh Progress and Challenges in Precision Medicine (Paperback)
Mukesh Verma, Debmalya Barh
R3,061 R2,785 Discovery Miles 27 850 Save R276 (9%) Ships in 12 - 17 working days

Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences.

Glycosphingolipids Signaling (Hardcover, 1st ed. 2020): Cheorl-Ho Kim Glycosphingolipids Signaling (Hardcover, 1st ed. 2020)
Cheorl-Ho Kim
R4,388 Discovery Miles 43 880 Ships in 10 - 15 working days

This book presents the latest knowledge and the most recent research results on glycosphingolipid (GSL)-mediated signaling. GSLs are important constituents of the plasma membrane that exert their distinct functions through binding to certain functional proteins. They play a role in various human diseases and also function as human alloantigens. Cellular GSLs are associated with many biological functions such as cellular oncotransformation, phenotype change, neuronal or embryonic development, regulation of cell division, cell-cell interaction, cell attachment, adhesion, and motility, and intracellular signaling via protein-carbohydrate or carbohydrate-carbohydrate interactions. This book opens by providing the key background on GSL glycan-receptor interactions and mammalian GSL synthesis. Up-to-date information is then presented on all aspects of GSL-dependent signaling. Viral protein and bacterial toxin protein interactions with host cell GSLs are examined in depth, and the concluding chapter is devoted to signaling regulation. The book should assist in the further development of new strategies against emerging infectious agents and intractable diseases.

Handbook of Neurobehavioral Genetics and Phenotyping (Hardcover): V. Tucci Handbook of Neurobehavioral Genetics and Phenotyping (Hardcover)
V. Tucci
R4,903 Discovery Miles 49 030 Ships in 12 - 17 working days

"The Handbook of Behavioral Genetics and Phenotyping" represents an integrative approach to neurobehavioural genetics; worldwide experts in their field will review all chapters. Advanced overviews of neurobehavioural characteristics will add immense value to the investigation of animal mutants and provide unique information about the genetics and behavioural understanding of animal models, under both normal and pathological conditions. Cross-species comparisons of neurobehavioural phenotypes will pave the way for an evolutionary understanding of behaviour.

Moreover, while biological sciences are progressing towards a holistic approach to investigate the complexity of organisms (i.e., "systems biology" approach), an integrated analysis of behavioural phenotyping is still lacking. "The" "Handbook of Behavioral Genetics and Phenotyping" strengthens the cross-talk within disciplines that investigate the fundamental basis of behaviour and genetics. This will be the first volume in which traditionally distant fields including genomics, behaviour, electrophysiology, neuroeconomics, and computational neuroscience, among others, are evaluated together and simultaneously accounted for during discussions of future perspectives.

Cancer - The Metabolic Disease Unravelled (Hardcover): Mark Sloan Cancer - The Metabolic Disease Unravelled (Hardcover)
Mark Sloan
R1,026 Discovery Miles 10 260 Ships in 10 - 15 working days
Genetic Toxicology Testing - A Laboratory Manual (Paperback): Ray Proudlock Genetic Toxicology Testing - A Laboratory Manual (Paperback)
Ray Proudlock
R2,023 Discovery Miles 20 230 Ships in 12 - 17 working days

Genetic Toxicology Testing: A Laboratory Manual presents a practical guide to genetic toxicology testing of chemicals in a GLP environment. The most commonly used assays are described, from laboratory and test design to results analysis. In a methodical manner, individual test methods are described step-by-step, along with equipment, suggested suppliers, recipes for reagents, and evaluation criteria. An invaluable resource in the lab, this book will help to troubleshoot any assay problems you may encounter to optimise quality and efficiency in your genetic toxicology tests. Genetic Toxicology Testing: A Laboratory Manual is an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own.

Chromatin Signaling and Diseases (Hardcover): Olivier Binda, Martin Ernesto Fernandez-Zapico Chromatin Signaling and Diseases (Hardcover)
Olivier Binda, Martin Ernesto Fernandez-Zapico
R3,114 R2,841 Discovery Miles 28 410 Save R273 (9%) Ships in 12 - 17 working days

Chromatin Signaling and Diseases covers the molecular mechanisms that regulate gene expression, which govern everything from embryonic development, growth, and human pathologies associated with aging, such as cancer. This book helps researchers learn about or keep up with the quickly expanding field of chromatin signaling. After reading this book, clinicians will be more capable of explaining the mechanisms of gene expression regulation to their patients to reassure them about new drug developments that target chromatin signaling mechanisms. For example, several epigenetic drugs that act on chromatin signaling factors are in clinical trials or even approved for usage in cancer treatments, Alzheimer's, and Huntington's diseases. Other epigenetic drugs are in development to regulate various class of chromatin signaling factors. To keep up with this changing landscape, clinicians and doctors will need to stay familiar with genetic advances that translate to clinical practice, such as chromatin signaling. Although sequencing of the human genome was completed over a decade ago and its structure investigated for nearly half a century, molecular mechanisms that regulate gene expression remain largely misunderstood. An emerging concept called chromatin signaling proposes that small protein domains recognize chemical modifications on the genome scaffolding histone proteins, facilitating the nucleation of enzymatic complexes at specific loci that then open up or shut down the access to genetic information, thereby regulating gene expression. The addition and removal of chemical modifications on histones, as well as the proteins that specifically recognize these, is reviewed in Chromatin Signaling and Diseases. Finally, the impact of gene expression defects associated with malfunctioning chromatin signaling is also explored.

Xenopus - Methods and Protocols (Paperback, Softcover reprint of the original 1st ed. 2018): Kris Vleminckx Xenopus - Methods and Protocols (Paperback, Softcover reprint of the original 1st ed. 2018)
Kris Vleminckx
R5,198 Discovery Miles 51 980 Ships in 10 - 15 working days

This volume explores techniques used to study and experiment with Xenopus in order to model or understand human disease. The chapters in this book cover topics such as implementation of CRISPR/Cas9 and TALEN in Xenopus from the design stage up to the genotyping stage; methods to explore generation of knock-in animals; cancer modelling and in vivo screening of congenital heart disease; electroporation; and phenotyping at the organismal level, cellular level, and proteome level. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and comprehensive, Xenopus: Methods and Protocols is a valuable resource for researchers who are interested in expanding their knowledge of this wide and developing field. This book will aid in keeping Xenopus at the forefront for biochemical, cell biological, and developmental studies and forward it as a preclinical disease model.

Collaborative Genomics Projects: A Comprehensive Guide (Paperback): Margi Sheth, Julia Zhang, Jean C. Zenklusen Collaborative Genomics Projects: A Comprehensive Guide (Paperback)
Margi Sheth, Julia Zhang, Jean C. Zenklusen
R1,808 R1,669 Discovery Miles 16 690 Save R139 (8%) Ships in 12 - 17 working days

Collaborative Genomics Projects: A Comprehensive Guide contains operational procedures, policy considerations, and the many lessons learned by The Cancer Genome Atlas Project. This book guides the reader through methods in patient sample acquisition, the establishment of data generation and analysis pipelines, data storage and dissemination, quality control, auditing, and reporting. This book is essential for those looking to set up or collaborate within a large-scale genomics research project. All authors are contributors to The Cancer Genome Atlas (TCGA) Program, a NIH- funded effort to generate a comprehensive catalog of genomic alterations in more than 35 cancer types. As the cost of genomic sequencing is decreasing, more and more researchers are leveraging genomic data to inform the biology of disease. The amount of genomic data generated is growing exponentially, and protocols need to be established for the long-term storage, dissemination, and regulation of this data for research. The book's authors create a complete handbook on the management of research projects involving genomic data as learned through the evolution of the TCGA program, a project that was primarily carried out in the US, but whose impact and lessons learned can be applied to international audiences.

Genome and Genomics - From Archaea to Eukaryotes (Hardcover, 1st ed. 2019): K. V. Chaitanya Genome and Genomics - From Archaea to Eukaryotes (Hardcover, 1st ed. 2019)
K. V. Chaitanya
R4,447 Discovery Miles 44 470 Ships in 10 - 15 working days

This book provides a detailed and up-to-dated information on the genomes belonging to three major life forms on Earth - archaea, prokaryotes and eukaryotes. Each section describes about the genome of a specific group of organisms, such as viruses, archaea, bacteria, eukaryotes and organellar genomes. Individual chapters provide details of their organization, structure, evolution, sequencing strategies and functions. Further, this book discusses the technologies that are applied for genome sequencing; assembly, annotation and gene prediction. Other topics include the genomes of important model organisms, mitochondria genome of Neanderthal fossil, etc. This book also examines the evolution of chloroplast and mitochondria genomes by comparing with bacteria, addresses the diseases that occur in humans due to the mutations in mitochondrial genome, gene therapy and engineering of chloroplast and mitochondrial genomes. Lastly, it features an overview of the role of proteomics, exposomics, connectomics, metabolomics, and microbiomics. This book is a fascinating read for students, lecturers and researchers in the field of genetics, genomics, microbiology and life sciences.

Genes and Evolution, Volume 119 (Hardcover): Virginie Orgogozo Genes and Evolution, Volume 119 (Hardcover)
Virginie Orgogozo
R4,988 Discovery Miles 49 880 Ships in 12 - 17 working days

Genes and Evolution, the latest volume in the Current Topics in Developmental Biology series, covers genes and evolution, with contributions from an international board of authors. The chapters provide a comprehensive set of reviews covering such topics as genes and plant domestication, gene networks, phenotypic loss in vertebrates, reproducible evolutionary changes, and epithelial tissue.

Medical Genetics (Paperback, 6th edition): Lynn B. Jorde, John C. Carey, Michael J. Bamshad Medical Genetics (Paperback, 6th edition)
Lynn B. Jorde, John C. Carey, Michael J. Bamshad
R1,538 Discovery Miles 15 380 Ships in 12 - 17 working days

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

DNA Replication Across Taxa, Volume 39 (Hardcover): Laura Kaguni DNA Replication Across Taxa, Volume 39 (Hardcover)
Laura Kaguni
R3,573 Discovery Miles 35 730 Ships in 12 - 17 working days

DNA Replication Across Taxa, the latest volume in The Enzymes series summarizes the most important discoveries associated with DNA replication.

Visualizing RNA Dynamics in the Cell, Volume 572 (Hardcover): Grigory S. Filonov, Samie Jaffrey Visualizing RNA Dynamics in the Cell, Volume 572 (Hardcover)
Grigory S. Filonov, Samie Jaffrey
R4,679 Discovery Miles 46 790 Ships in 12 - 17 working days

Methods in Enzymology: Visualizing RNA Dynamics in the Cell continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers research methods visualizing RNA dynamics in the cell, and includes sections on such topics as identification of RNA cis-regulatory sequences, IRAS, IMAGEtags, MERFISH, plant RNA labeling using MS2, and visualization of 5S dynamics in live cells using photostable corn probe.

Advances in Genetics Research - Volume 5 (Hardcover): Kevin V Urbano Advances in Genetics Research - Volume 5 (Hardcover)
Kevin V Urbano
R2,483 R2,286 Discovery Miles 22 860 Save R197 (8%) Ships in 12 - 17 working days

"Advances in Genetics Research" presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as the assessment and testing by genoproteomics and therapeutic planning of hereditary ovarian cancer; the examination of gene flow in five major taxa at Evolution Canyon, Israel; functional analysis of the entomopathogenic nematode parasitism; genome structure and genomic stability; the role of CCDC26 in human acute myeloid leukaemia; and missense mutations and genetic testing.

Nonsense Mutation Correction in Human Diseases - An Approach for Targeted Medicine (Paperback): Fabrice Lejeune, Hana... Nonsense Mutation Correction in Human Diseases - An Approach for Targeted Medicine (Paperback)
Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia
R2,009 R1,848 Discovery Miles 18 480 Save R161 (8%) Ships in 12 - 17 working days

Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine.

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