Condition: Supravalvular aortic stenosis


rs137854452 in ELN gene and Supravalvular aortic stenosis PMID 9215670 1997 Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 10190324 1999 Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.

PMID 17037986 2007 Domains 16 and 17 of tropoelastin in elastic fibre formation.

PMID 22740173 2012 Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.

rs727503783 in ELN;ELN-AS1 gene and Supravalvular aortic stenosis PMID 9215671 1997 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.