Overview
- Includes supplementary material: sn.pub/extras
Part of the book series: Methods in Molecular Medicine (MIMM, volume 43)
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Table of contents (25 protocols)
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The molecular approach
About this book
Reviews
"Several of the authors have been major players in making it all possible. It is remarkable to observe how many of the scientific discoveries have had immediate impact on molecular testing and thus have benefited many families through more accurate diagnoses and counseling....After a well-written background section, a major portion of the book deals with the molecular approach to X-linked DMD...Outstanding multiplex and Southern procedures are described in great detail, with primer sequences and maps of the restriction fragment patterns provided....Carrier testing, prenatal testing, and genetic counseling are also well covered in the remaining chapters dealing with DMD....The last major section of the book deals with protocols for testing the protein products of several of the dystrophies described earlier. This is an excellent addition because there are often times where the protein analysis is not only supportive but is the definitive test for an accurate diagnosis. Both immunocytochemical and Western immunoblotting are described. I have little doubt that this book will be of great interest and a reference text for laboratory directors specifically involved in muscular dystrophy testing. The techniques are described in great detail with excellent figures. This book will also be of interest to the clinical neurologists who often encounter these disorders. The editors have provided a comprehensive account of not only the methods, but also the clinical utilities of the methods." - Clinical Chemistry
"...this book certainly lives up to the back-cover hype ("comprehensive and highly practical"; "offers...an authoritative collection of tools"). I was particularly impressed by the emphasis on the limitations of each technique, directions for interpretation, important controls and the level of rigor required in a diagnostic setting. The chosen authors are almost without exception recognized as first-rate practitioners of their respective techniques. Their distilled wisdom, the microlitre-by-microlitre protocols, and the tried-and-tested primer sequences (well over 800) make this book an almost sufficient guide to the de novo establishment of a muscular dystrophy diagnostic lab." - Human Genetics
Editors and Affiliations
Bibliographic Information
Book Title: Muscular Dystrophy
Book Subtitle: Methods and Protocols
Editors: Katharine M.D. Bushby, Louise V.B. Anderson
Series Title: Methods in Molecular Medicine
DOI: https://doi.org/10.1385/1592591388
Publisher: Humana Totowa, NJ
eBook Packages: Springer Protocols
Copyright Information: Humana Press 2001
Hardcover ISBN: 978-0-89603-695-6Published: 15 April 2001
Softcover ISBN: 978-1-61737-140-0Published: 09 November 2010
eBook ISBN: 978-1-59259-138-1Published: 01 February 2008
Series ISSN: 1543-1894
Series E-ISSN: 1940-6037
Edition Number: 1
Number of Pages: XII, 458
Topics: Neurology
Industry Sectors: Biotechnology, Finance, Business & Banking, Health & Hospitals, Pharma