A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
Consevage
M W
MW
Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17036.
Salada
G C
GC
Baylen
B G
BG
Ladda
R L
RL
Rogan
P K
PK
D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000097:blood / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005973:Glutamine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009206:Myocardium / Q000378:metabolism*; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012016:Reference Values
D017931:DNA Primers; D005973:Glutamine; D004247:DNA; D001120:Arginine; D009218:Myosins