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.
Rezensionen / Stimmen
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
Reihe
Auflage
Sprache
Verlagsort
Zielgruppe
Für Beruf und Forschung
Professional/practitioner
Editions-Typ
Produkt-Hinweis
Broschur/Paperback
Klebebindung
Illustrationen
Maße
Höhe: 229 mm
Breite: 152 mm
Dicke: 23 mm
Gewicht
ISBN-13
978-1-61737-259-9 (9781617372599)
DOI
Schweitzer Klassifikation
Optimizing PCR for Clinical Diagnosis.- Current and Emerging Techniques for Diagnostic Mutation Detection.- Mutation Scanning for the Clinical Laboratory.- Mutation Scanning for the Clinical Laboratory-Protein Truncation Test.- Mutation Scanning for the Clinical Laboratory.- Comparative Sequence Analysis.- Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization.- Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR.- Fragile X Disease.- Huntington's Disease.- Hematological Applications.- Cystic Fibrosis.- Familial Adenomatous Polyposis.- Multiple Endocrine Neoplasia Types 1 and 2.- Neurofibromatosis Type 1.- Duchenne and Becker Muscular Dystrophy.- Spinal Muscular Atrophy.- Quality Management in Molecular Genetics.- Regulation of Genetic Testing in Clinical Practice.
