A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

Circulation

Volumn 101, Issue 12, 2000, Pages 1396-1402

  Moolman, Johannes A ^a   Reith, Sebastian ^b   Kerstin, UhI ^a   Bailey, Sonja ^a   Gautel, Mathias ^e   Jeschke, Brigitte ^a   Fischer, Christine ^c   Ochs, Julia ^b   McKenna, William J ^d   Klues, Heinz ^b   Vosberg, Hans Peter ^a  

^a MAX PLANCK INSTITUTE FOR HEART AND LUNG RESEARCH   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

Author keywords

Cardiomyopathy; Diagnosis; Genes

Indexed keywords

DNA; MESSENGER RNA; MYOSIN BINDING PROTEIN C;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXON; FAMILY STUDY; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; ONSET AGE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034724252     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.101.12.1396     Document Type: Article

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