A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.
Sakthivel
S
S
Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, India.
Joseph
P K
PK
Tharakan
J M
JM
Vosberg
H P
HP
Rajamanickam
C
C
D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007194:India; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D001120:Arginine; D018995:Myosin Heavy Chains; D007930:Leucine