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.

Human mutation

Volumn 15, Issue 3, 2000, Pages 298-299

  Sakthivel, S ^a   Joseph, P K ^a   Tharakan, J M ^a   Vosberg, H P ^a   Rajamanickam, C ^a  

^a MADURAI KAMARAJ UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE; MYOSIN HEAVY CHAIN;

ADULT; AGED; ARTICLE; CHILD; FEMALE; GENETICS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INDIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; ARGININE; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; FEMALE; HUMANS; INDIA; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

MLCS; MLOWN;

EID: 0034145538     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7     Document Type: Article

References (0)