Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland

Journal of Molecular Medicine

Volumn 80, Issue 7, 2002, Pages 412-422

  Jääskeläinen, Pertti ^a   Kuusisto, Johanna ^a   Miettinen, Raija ^a   Kärkkäinen, Päivi ^a   Kärkkäinen, Satu ^a   Heikkinen, Sami ^a   Peltola, Paula ^a   Pihlajamäki, Jussi ^a   Vauhkonen, Ilkka ^a   Laakso, Markku ^a  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

Author keywords

Hypertrophic cardiomyopathy; Mutation; Myosin binding protein C

Indexed keywords

AMINO ACID; ARGININE; GLUTAMINE; LEUCINE; MUTANT PROTEIN; MYOSIN BINDING PROTEIN C; SERINE; VALINE; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FINLAND; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HEART VENTRICLE HYPERTROPHY; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PROTEIN STRUCTURE; PROTEIN VARIANT; SINGLE STRAND CONFORMATION POLYMORPHISM; ECHOCARDIOGRAPHY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETIC POLYMORPHISM; GENETICS; HEART MUSCLE; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; ECHOCARDIOGRAPHY; FEMALE; FINLAND; HAPLOTYPES; HUMAN; MALE; MIDDLE AGE; MUTATION; MYOCARDIUM; PEDIGREE; POLYMORPHISM (GENETICS); SUPPORT, NON-U.S. GOV'T; HUMANS; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 0036019515     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-002-0323-9     Document Type: Article

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