Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p.N342D

Netherlands Heart Journal

Volumn 20, Issue 5, 2012, Pages 219-228

  van Spaendonck Zwarts, K Y ^a   van der Kooi, A J ^b   van den Berg, M P ^a   Ippel, E F ^c   Boven, L G ^a   Yee, W C ^d   van den Wijngaard, A ^e   Brusse, E ^f   Hoogendijk, J E ^c   Doevendans, P A ^c   de Visser, M ^b   Jongbloed, J D H ^a   van Tintelen, J P ^a,g  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d SINGAPORE GENERAL HOSPITAL   (Singapore)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g Durrer Center for Cardiogenetic Research   (Netherlands)

Author keywords

Cardiac conduction disease; Cardiomyopathy; Desmin; Founder mutation; Genetics

Indexed keywords

DESMIN;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CHILD; CONTROLLED STUDY; DESMIN GENE; DESMIN RELATED MYOPATHY; DISEASE CARRIER; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENEALOGY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NETHERLANDS; PEDIGREE; PHENOTYPE; SCHOOL CHILD;

EID: 84866256105     PISSN: 15685888     EISSN: 18766250     Source Type: Journal    
DOI: 10.1007/s12471-011-0233-y     Document Type: Article

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