Article
A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.
Biochemical and biophysical research communications - 30 Jul 1993
Harada H, Kimura A, Nishi H, Sasazuki T, Toshima H
Abstract excerpt
A novel missense mutation of the cardiac beta-myosin heavy chain gene was detected in five unrelated Japanese patients and their affected family members with hypertrophic cardiomyopathy (HCM) by using the polymerase chain reaction (PCR)-DNA conformation polymorphism (DCP) analysis. Sequencing ana...
Topics
- Actins
- Amino Acid Sequence
- Animals
- Base Sequence
- Binding Sites
- Cardiomyopathy, Hypertrophic
- Chickens
- Conserved Sequence
- DNA
- Female
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Myosins
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides