Article
Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein.
The Journal of clinical investigation - 15 Jul 1997
Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz W M, Fischer C, Vollrath B, Mall G, Dietz R, Kübler W, Katus H A
Abstract excerpt
Familial hypertrophic cardiomyopathy is a disease generally believed to be caused by mutations in sarcomeric proteins. In a family with hypertrophic cardiomyopathy linked to polymorphic markers on chromosome 11, we found a new mutation of a splice donor site of the cardiac myosin-binding protein-...
Topics
- Blotting, Western
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- Chromosomes, Human, Pair 11
- Electrophoresis, Polyacrylamide Gel
- Female
- Genetic Linkage
- Humans
- Male
- Mutation
- Myocardium
- Pedigree
- Peptide Fragments
- Polymorphism, Single-Stranded Conformational