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  • Book
  • © 2003

Neurogenetics

Methods and Protocols

Editors:

  1. Nicholas T. Potter

    1. University of Tennessee Medical Center, Tennessee, USA

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Part of the book series: Methods in Molecular Biology (MIMB, volume 217)

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Table of contents (32 protocols)

  1. Front Matter

    Pages i-xiii
    PDF

  2. Quantitative PCR

    1. Front Matter

      Pages 1-1
      PDF

    2. Determination of Gene Dosage

      • Thomas W. Prior
      Pages 3-12

  3. Trinucleotide Repeat Detection

    1. Front Matter

      Pages 27-27
      PDF

    4. Repeat Expansion Detection (RED) and the RED Cloning Strategy

      • Qiu-Ping Yuan, Kerstin Lindblad-Toh, Martin Schalling
      Pages 51-60

    6. DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats

      • Kazuhiro Sanpei, Takeshi Ikeuchi, Shoji Tsuji
      Pages 73-82

  4. Sequence-Based Mutation Detection

    1. Front Matter

      Pages 109-109
      PDF

    2. Molecular Detection of Galactosemia Mutations by PCR-ELISA

      • Kasinathan Muralidharan, Wei Zhang
      Pages 111-118
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About this book

The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular Biology™ series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.
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Reviews

"This book provides detailed laboratory methods in its of 32 chapters. Each chapter provides sufficient detail to allow the duplication of the laboratory method. The emphasis is on neurogenetic diseases and the methods are all molecular biological including PCR, DNA sequencing, Western Blot, and Southern Blot. Diseases covered include Huntington's disease, Charcot-Marie-Tooth, Rett's Syndrome, Leber's Optic Atrophy, spinocerebellar ataxias, Parkinson's disease, and neurological mitochondrial diseases.. This is a unique and highly useful book that details laboratory methods in more detail than any comparable book. Laboratory scientists and investigators who wish to use neurogenetic laboratory methods to study these disorders will find great value in this compendium of methodologies."-Doody's Health Sciences Book Review Journal
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Editors and Affiliations

  • University of Tennessee Medical Center, Tennessee, USA

    Nicholas T. Potter

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Bibliographic Information

  • Book Title: Neurogenetics

  • Book Subtitle: Methods and Protocols

  • Editors: Nicholas T. Potter

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1385/1592593305

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2003

  • Hardcover ISBN: 978-0-89603-990-2Published: 09 October 2002

  • Softcover ISBN: 978-1-61737-290-2Published: 10 November 2010

  • eBook ISBN: 978-1-59259-330-9Published: 02 February 2008

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XIII, 390

  • Topics: Neurosciences

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Buy it now

eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

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