Molecular Diagnosis of Genetic Diseases
In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic te...
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| Format: | eBook |
| Language: | English |
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Totowa, NJ
Humana Press
2004, 2004
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| Edition: | 2nd ed. 2004 |
| Series: | Methods in Molecular Medicine
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| Online Access: | |
| Collection: | Springer Protocols Archive 1981-2004 - Collection details see MPG.ReNa |
Table of Contents:
- 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