The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

European Heart Journal

Volumn 24, Issue 20, 2003, Pages 1848-1853

  Alders, Marielle ^a   Jongbloed, Roselie ^b   Deelen, Wout ^c   Van den Wijngaard, Arthur ^d   Doevendans, Pieter ^e   Cate, Folkert Ten ^c   Regitz Zagrosek, Vera ^f   Vosberg, Hans Peter ^g   Van Langen, Irene ^a   Wilde, Arthur ^a   Dooijes, Dennis ^c   Mannens, Marcel ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Department of Cardio Thoracic Surgery   (Netherlands)

^f DEUTSCHES HERZZENTRUM BERLIN   (Germany)

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

Author keywords

Cardiomyopathy; Founder mutation; Hypertrophic; Myosin binding protein C

Indexed keywords

PROTEIN; SARCOMERIC PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; FEMALE; FOUNDER EFFECT; FOUNDER MUTATION; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MYOSIN BINDING PROTEIN C3 GENE; NETHERLANDS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; FEMALE; FOUNDER EFFECT; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE;

EID: 0142104868     PISSN: 0195668X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0195-668X(03)00466-4     Document Type: Article

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