Recurrent and founder mutations in the Netherlands: Cardiac troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Netherlands Heart Journal

Volumn 19, Issue 8, 2011, Pages 344-351

  van den Wijngaard, A ^a   Volders, P ^a   van Tintelen, J P ^b   Jongbloed, J D H ^b   van den Berg, M P ^b   Lekanne Deprez, R H ^c   Mannens, M M A M ^c   Hofmann, N ^c   Slegtenhorst, M ^d   Dooijes, D ^d   Michels, M ^d   Arens, Y ^a   Jongbloed, R ^a   Smeets, B J M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

DCM; Founder; HCM; RCM; TNNI3

Indexed keywords

ARGININE; GLUTAMINE; PHENYLALANINE; SERINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CAUSAL ATTRIBUTION; CHILD; DISEASE SEVERITY; DNA FLANKING REGION; EXON; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; MARKER GENE; NETHERLANDS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POPULATION GENETICS; PRESCHOOL CHILD; RECURRENT DISEASE; RESTRICTIVE CARDIOMYOPATHY; SCHOOL CHILD; TNNI3 GENE;

EID: 80053376077     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12471-011-0135-z     Document Type: Article

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