Ontology highlight
ABSTRACT:
SUBMITTER: Merner ND
PROVIDER: S-EPMC2427209 | biostudies-literature | 2008 Apr
REPOSITORIES: biostudies-literature
Merner Nancy D ND Hodgkinson Kathy A KA Haywood Annika F M AF Connors Sean S French Vanessa M VM Drenckhahn Jörg-Detlef JD Kupprion Christine C Ramadanova Kalina K Thierfelder Ludwig L McKenna William W Gallagher Barry B Morris-Larkin Lynn L Bassett Anne S AS Parfrey Patrick S PS Young Terry-Lynn TL
American journal of human genetics 20080228 4
Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetically isolated population. Identification of key recombination events reduced the disease region to a 2.36 Mb interval containing 20 annotated genes. Bidirectional resequencing showed one rare variant in ...[more]