Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Li DY et al.
Human Molecular Genetics, 1997
Select a paper to view details