Ontology highlight
ABSTRACT:
SUBMITTER: Moller DV
PROVIDER: S-EPMC2986634 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Møller Daniel Vega DV Andersen Paal Skytt PS Hedley Paula P Ersbøll Mads Kristian MK Bundgaard Henning H Moolman-Smook Johanna J Christiansen Michael M Køber Lars L
European journal of human genetics : EJHG 20090318 10
We investigated a Danish cohort of 31 unrelated patients with idiopathic dilated cardiomyopathy (IDC), to assess the role that mutations in sarcomere protein genes play in IDC. Patients were genetically screened by capillary electrophoresis single strand conformation polymorphism and subsequently by bidirectional DNA sequencing of conformers in the coding regions of MYH7, MYBPC3, TPM1, ACTC, MYL2, MYL3, TNNT2, CSRP3 and TNNI3. Eight probands carried disease-associated genetic variants (26%). In ...[more]