Ontology highlight
ABSTRACT:
SUBMITTER: Ewart AK
PROVIDER: S-EPMC294040 | biostudies-other | 1994 Mar
REPOSITORIES: biostudies-other
Ewart A K AK Jin W W Atkinson D D Morris C A CA Keating M T MT
The Journal of clinical investigation 19940301 3
Supravalvular aortic stenosis (SVAS) is an inherited vascular disease that can cause heart failure and death. SVAS can be inherited as an autosomal dominant trait or as part of a developmental disorder, Williams syndrome (WS). In recent studies we presented evidence suggesting that a translocation disrupting the elastin gene caused SVAS in one family while deletions involving the entire elastin locus caused WS. In this study, pulsed-field, PCR, and Southern analyses showed that a 100-kb deletion ...[more]