This completely revised and updated second edition to integrates
the many new technologies and insights now available for the
diagnosis of genetic diseases. The authors use such methodologies
as PCR optimization dosage analysis, mutation scanning, and
quantitative fluorescent PCR for aneuploidy analysis,
Neurofibromatosis type 1, and Duchenne muscular dystrophy. These
largely generic methodologies may be adapted to most genetic
conditions for which a molecular diagnosis is relevant, no matter
how frequent or rare their incidence. Molecular Diagnosis of
Genetic Diseases, Second Edition offers diagnostic molecular
geneticists a unique opportunity to sharpen their scientific skills
in the design of assays, their execution, and their interpretation.
General
Imprint: |
HumanaPress
|
Country of origin: |
United States |
Series: |
Methods in Molecular Medicine, 92 |
Release date: |
November 2010 |
First published: |
2004 |
Editors: |
Rob Elles
|
Dimensions: |
229 x 152 x 22mm (L x W x T) |
Format: |
Paperback
|
Pages: |
387 |
Edition: |
Softcover reprint of hardcover 2nd ed. 2004 |
ISBN-13: |
978-1-61737-259-9 |
Categories: |
Books >
Medicine >
Pre-clinical medicine: basic sciences >
Medical genetics
Promotions
|
LSN: |
1-61737-259-5 |
Barcode: |
9781617372599 |
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