Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: Total or partial haploinsufficiency

European Journal of Human Genetics

Volumn 12, Issue 8, 2004, Pages 673-677

  Andersen, Paal S ^a,b   Havndrup, Ole ^c   Bundgaard, Henning ^c   Larsen, Lars A ^a,b,d   Vuust, Jens ^a   Pedersen, Anders K ^e   Kjeldsen, Keld ^c   Christiansen, Michael ^a,b  

^a STATENS SERUM INSTITUT   (Denmark)

^b Section for Research and Development   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Cardiomyopathy; Myosin binding protein C; Sudden death

Indexed keywords

DNA; LYSINE; MESSENGER RNA; MYOSIN BINDING PROTEIN C;

ADULT; AGED; ARTICLE; CODON; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; DNA SPLICING; EXON; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAMILY; FEMALE; FRAMESHIFT MUTATION; FREQUENCY ANALYSIS; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATIENT REFERRAL; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RNA STABILITY; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSCRIPTION TERMINATION;

ADULT; AGED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHILD; DENMARK; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HUMANS; LYMPHOCYTES; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; SARCOMERES; SEQUENCE ANALYSIS, DNA;

EID: 4444316404     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201190     Document Type: Article

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