Ontology highlight
ABSTRACT:
SUBMITTER: Maiwald S
PROVIDER: S-EPMC4795224 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Maiwald Stephanie S Motazacker Mahdi M MM van Capelleveen Julian C JC Sivapalaratnam Suthesh S van der Wal Allard C AC van der Loos Chris C Kastelein John J P JJ Ouwehand Willem H WH Hovingh G Kees GK Trip Mieke D MD van Buul Jaap D JD Dallinga-Thie Geesje M GM
European journal of human genetics : EJHG 20150422 1
Cardiovascular disease (CVD) is a major cause of death in Western societies. CVD risk is largely genetically determined. The molecular pathology is, however, not elucidated in a large number of families suffering from CVD. We applied exclusion linkage analysis and next-generation sequencing to elucidate the molecular defect underlying premature CVD in a small pedigree, comprising two generations of which six members suffered from premature CVD. A total of three variants showed co-segregation wit ...[more]