ENGLISH

Molecular Diagnosis of Genetic Diseases

By Rob Elles

Book information

Publisher
Humana Press
Year
2002
ISBN
9780896039322, 9781592594320, 0896039323
LCC
RB155.6 .M65 2004
Google Books ID
OqkZgeO1uAkC
Open Library ID
OL17616404M
Language
english
Format
PDF
Filesize
5 MB (4952158 bytes)
Series
Methods in Molecular Medicine v. 1
Edition
2nd
Pages
377\377
Library
mexmat
Scanned
yes
Time added
2009-07-20 03:45:11

Description

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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