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Article

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

Human molecular genetics - 1 Jul 1997

Li D Y, Toland A E, Boak B B, Atkinson D L, Ensing G J, Morris C A, Keating M T

Abstract excerpt

Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease p...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9215670
DOI: 10.1093/hmg/6.7.1021

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9215670-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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