Methods in Molecular Medicine

Molecular Diagnosis of Genetic Diseases

Editors: Elles, Rob (Ed.)

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  • ISBN 978-1-59259-432-0
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Hardcover 166,39 €
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Softcover 150,79 €
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About this book

In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, 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. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The 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. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls.
Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Reviews

Reviews of the first edition:

"The chapters are clear and well written, and the book would be useful to those looking for a technique manual directed specifically toward clinical application of molecular genetic diagnostic testing. Three Stars" -Doody's Health Sciences Book Review Journal

"The book's scope, crisp text, attention to details, and spiral binding all make this a useful benchtop reference manual, to which this already stained copy will testify." -Laboratory Corporation of America

"With its contribution to the series Methods in Molecular Medicine, Rob Elles has filled a gap...provides a fairly complete view on the current state of the art in clinical molecular genetics. A wealth of information and experience is described by Elles." -Med Genet

"This book will be widely welcomed by scientists involved in the molecular diagnosis of inherited disorders. For the first time, protocols, support information and references for a dozen single gene disorders are gathered into a single source." -Trends in Genetics

Table of contents (19 chapters)

Table of contents (19 chapters)

Buy this book

eBook 117,69 €
price for Spain (gross)
  • ISBN 978-1-59259-432-0
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover 166,39 €
price for Spain (gross)
  • ISBN 978-0-89603-932-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
Softcover 150,79 €
price for Spain (gross)
  • ISBN 978-1-61737-259-9
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
  • The final prices may differ from the prices shown due to specifics of VAT rules
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Bibliographic Information

Bibliographic Information
Book Title
Molecular Diagnosis of Genetic Diseases
Editors
  • Rob Elles
Series Title
Methods in Molecular Medicine
Series Volume
92
Copyright
2004
Publisher
Humana Press
Copyright Holder
Humana Press
eBook ISBN
978-1-59259-432-0
DOI
10.1385/1592594328
Hardcover ISBN
978-0-89603-932-2
Softcover ISBN
978-1-61737-259-9
Series ISSN
1543-1894
Edition Number
2
Number of Pages
X, 387
Topics