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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders > Hereditary diseases & disorders
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Morbid Anatomy of the Genome, Volume 2 (Hardcover)
Loot Price: R2,928
Discovery Miles 29 280
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Morbid Anatomy of the Genome, Volume 2 (Hardcover)
Series: Advances in Genome Biology
Expected to ship within 12 - 19 working days
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The technical advances in molecular biology have endowed us with a
wealth of knowledge, which has allowed us to identify the cause of
diseases not only at a single gene level but at a greater
magnitude, where a substitution or deletion of a single base pair
can be identified. Our present task is to establish a clear link
between phenotype and nucleotide sequence. Obviously, a gene is no
longer an imaginary entity. Recent discoveries in a number of
bewildering traits, whose inheritance do not follow simple
mendelian rules, have caused much amazement. For example, fragile
X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy
arise from "triples repeat mutation" and amplification in future
generations. Genetic diseases which are inherited, can now be
diagnosed prenatally; an idea that was once inconceivable.
The aim of the second volume, entitled Morbid Anatomy of the
Genome, is to reflect on the importance of molecular genetics in
modern medicine. The field has expanded so as to warrant a volume
dedicated exclusively toward understanding those who wish to know
the cause, detection and in turn treatment of such diseases. In
this volume, I have commissioned several scientists to contribute
12 chapters. A chapter describing a special role of molecular
genetics in combating genetic diseases through gene therapy has
also been included, while chapter 13 is a commentary.
A complete account of all diseases whose genetic basis is well
established would be a herculean task and is not within the scope
of a single volume format. Therefore a few specific topics have
been chosen which may be of the greatest interest to scientists and
clinicians. The purpose of this issue is to keep abreast of the
latest developments in a select group of genetic diseases.
General
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