Article
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
Cell - 7 Sept 1990
Geisterfer-Lowrance A A, Kass S, Tanigawa G, Vosberg H P, McKenna W, Seidman C E, Seidman J G
Abstract excerpt
A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with familial hypertrophic cardiomyopathy (FHC) from a large kindred. This missense mutation converts a highly conserved arginine residue (Arg-403) to a glutamine. Affected individuals from an unrelated family lack this missense mutation, but instead have an alpha/beta cardiac MHC hybrid gene....
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cardiomegaly
- DNA
- DNA Probes
- Exons
- Female
- Genes
- Genomic Library
- Humans
- Macromolecular Substances