Molecular Diagnosis of Genetic Diseases
| Autor Corporativo: | |
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| Otros Autores: | |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Totowa, NJ :
Humana Press : Imprint: Humana,
2004.
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| Edición: | 2nd ed. 2004. |
| Colección: | Methods in Molecular Medicine,
92 |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1385/1592594328 |
Tabla de Contenidos:
- 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.