Molecular diagnosis of genetic diseases /
| Other Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Totowa, NJ :
Humana Press,
[2004]
|
| Edition: | Second edition. |
| Series: | Methods in molecular medicine ;
92. |
| Subjects: |
Table of Contents:
- Optimizing PCR for clinical diagnosis
- Current and emerging techniques for diagnostic mutation detection : an overview of methods for mutation detection
- Mutation scanning for the clinical laboratory : DHPLC
- Mutation scanning for the clinical laboratory - protein truncation test
- Mutation scanning for the clinical laboratory : automated fluorescent sequencing
- 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 : Hemoglobinopathies
- Cystic fibrosis
- Familial adenomatous polyposis
- Multiple endocrine neoplasia types 1 and 2
- Neurofibromatosis type 1 : a common familial cancer syndrome
- Duchenne and Becker muscular dystrophy
- Spinal muscular atrophy
- Quality management in molecular genetics
- Regulation of genetic testing in clinical practice