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Molecular Diagnosis of Genetic Diseases 2nd Edition by Rob Elles 9781592594320 1592594328

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Molecular Diagnosis of Genetic Diseases 2nd Edition Rob Elles Digital Instant Download

Author(s): Rob Elles
ISBN(s): 9781592594320, 1592594328
Edition: 2nd
File Details: PDF, 4.72 MB
Year: 2002
Language: english
SKU: EB-921058 Category: Tag:

Molecular Diagnosis of Genetic Diseases 2nd Edition by Rob Elles – Ebook PDF Instant Download/Delivery: 9781592594320, 1592594328 
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ISBN 10: 1592594328 
ISBN 13: 9781592594320
Author: Rob Elles

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.

Molecular Diagnosis of Genetic Diseases 2nd Table of contents:

  1. Front Matter
  2. Optimizing PCR for Clinical Diagnosis
  3. Current and Emerging Techniques for Diagnostic Mutation Detection
  4. Mutation Scanning for the Clinical Laboratory
  5. Mutation Scanning for the Clinical Laboratory-Protein Truncation Test
  6. Mutation Scanning for the Clinical Laboratory
  7. Comparative Sequence Analysis
  8. Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization
  9. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR
  10. Fragile X Disease
  11. Huntington’s Disease
  12. Hematological Applications
  13. Cystic Fibrosis
  14. Familial Adenomatous Polyposis
  15. Multiple Endocrine Neoplasia Types 1 and 2
  16. Neurofibromatosis Type 1
  17. Duchenne and Becker Muscular Dystrophy
  18. Spinal Muscular Atrophy
  19. Quality Management in Molecular Genetics
  20. Regulation of Genetic Testing in Clinical Practice

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Molecular Diagnosis,Genetic Diseases,Rob Elles