Article
An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations.
Circulation - 1 Jan 1994
MacRae C A, Watkins H C, Jarcho J A, Thierfelder L, McKenna W J, Seidman J G, Seidman C E
Abstract excerpt
BACKGROUND: Ribonuclease (RNase) protection has been used to identify beta-cardiac myosin heavy chain (MHC) gene mutations that cause familial hypertrophic cardiomyopathy (FHC). Since more than 10 different mutations within this gene have been demonstrated to cause FHC in unrelated individuals, t...
Topics
- Adult
- Cardiomyopathy, Hypertrophic
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Genetic Testing
- Humans
- Male
- Molecular Probe Techniques
- Mutation
- Myosins
- Pedigree
- Ribonucleases
- Sensitivity and Specificity