Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases
Author :
Publisher : Springer Science & Business Media
Total Pages : 392
Release :
ISBN-10 : 9781592594320
ISBN-13 : 1592594328
Rating : 4/5 (328 Downloads)

Book Synopsis Molecular Diagnosis of Genetic Diseases by : Rob Elles

Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.


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