In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament

Circulation Research

Volumn 108, Issue 6, 2011, Pages 751-764

  Harris, Samantha P ^a   Lyons, Ross G ^a   Bezold, Kristina L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

hypertrophic cardiomyopathy; myosin binding protein C; myosin essential light chain; myosin regulatory light chain

Indexed keywords

ACTIN; MYOSIN; MYOSIN BINDING PROTEIN C; MYOSIN ESSENTIAL LIGHT CHAIN; MYOSIN HEAVY CHAIN BETA; MYOSIN REGULATORY LIGHT CHAIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM BINDING; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART CONTRACTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOFILAMENT; NONHUMAN; NULL ALLELE; PREVALENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; RNA SPLICING; SEQUENCE ANALYSIS;

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; HUMANS; MICE; MICE, TRANSGENIC; MUTATION; MYOSIN LIGHT CHAINS; MYOSINS;

EID: 79953048882     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.110.231670     Document Type: Article

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