Novel splice donor site mutation in the cardiac myosin-binding protein- C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein

Journal of Clinical Investigation

Volumn 100, Issue 2, 1997, Pages 475-482

  Rottbauer, Wolfgang ^a   Gautel, Mathias ^b   Zehelein, Jörg ^a   Labeit, Siegfried ^b   Franz, Wolfgang M ^c   Fischer, Christine ^a   Vollrath, Benedikt ^a   Mall, Gerhard ^d   Dietz, Reiner ^e   Kübler, Wolfgang ^a   Katus, Hugo A ^c  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

^d KLINIKUM DARMSTADT   (Germany)

^e MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Cardiac myosin binding protein C; Cotranslation; Myocardial tissue; Null allele; Sarcomere assembly

Indexed keywords

PROTEIN C;

ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; MALE; PEDIGREE; PRIORITY JOURNAL; RNA ANALYSIS; RNA TRANSCRIPTION;

EID: 0030852878     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119555     Document Type: Article

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