Neurogenetics

Methods and Protocols

  • Nicholas T. Potter

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

Table of contents

  1. Front Matter
    Pages i-xiii
  2. Quantitative PCR

    1. Front Matter
      Pages 1-1
    2. Thomas W. Prior
      Pages 3-12
  3. Trinucleotide Repeat Detection

  4. Sequence-Based Mutation Detection

About this book

Introduction

The rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms of neurological diseases, but also for improving their diagnosis and management. In Neurogenetics: Methods and Protocols, an international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing these genes, their mutations, and their proteins. Providing detailed step-by-step instructions to ensure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. Each method has been thoroughly tested and includes notes on troubleshooting and avoiding pitfalls.
Comprehensive and timely, Neurogenetics: Methods and Protocols offers academic neurologists and clinical laboratory diagnosticians an authoritative collection of readily reproducible techniques that can greatly assist with the diagnosis, management, and understanding of the pathophysiologic mechanisms of neurological diseases.

Editors and affiliations

  • Nicholas T. Potter
    • 1
  1. 1.University of Tennessee Medical CenterTennesseeUSA

Bibliographic information

  • DOI https://doi.org/10.1385/1592593305
  • Copyright Information Humana Press 2003
  • Publisher Name Springer, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-0-89603-990-2
  • Online ISBN 978-1-59259-330-9
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • About this book
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