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Article

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

Human genetics - 1 Nov 2001

Urbán Z, Zhang J, Davis E C, Maeda G K, Kumar A, Stalker H, Belmont J W, Boyd C D, Wallace M R

Abstract excerpt

We have identified two elastin gene (ELN) mutations located in cis in two related families with supravalvular aortic stenosis (SVAS). These mutations included an in-frame duplication in exon 18 (1034-1057dup) and a single base substitution in exon 26 (1829G-->A) predicted to result in the amino acid substitution R610Q. Haplotype analysis in one of the families identified an individual with a recombination between...

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Identifiers

PMID: 11735026
DOI: 10.1007/s00439-001-0608-z

Genes

ELN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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