Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new mutation in the elastin gene causing supravalvular aortic stenosis.

The American journal of cardiology - 1 Apr 1999

Boeckel T, Dierks A, Vergopoulos A, Bähring S, Knoblauch H, Müller-Myhsok B, Baron H, Aydin A, Bein G, Luft F C, Schuster H

Abstract excerpt

A large supravalvular aortic stenosis kindred, with a point mutation in exon 18 and a stop codon in exon 22 of the elastin gene, is described. Clinically, the disease severity appeared to increase in successive generations in this family.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aortic Valve Stenosis
Share to Codon, Terminator
Share to Elastin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Haplotypes

Share to Infant

Share to Point Mutation

Source

Identifiers

PMID: 10190538
DOI: 10.1016/s0002-9149(99)00032-6

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mutation in the elastin gene causing supravalvular aortic stenosis.PMID 10190538Read ↗

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.Semantic proximity Read ↗

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.Semantic proximity Read ↗

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosisSemantic proximity Read ↗

Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.Semantic proximity Read ↗

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosisSemantic proximity Read ↗

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.Semantic proximity Read ↗

Supravalvular Aortic StenosisSemantic proximity Read ↗

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.Semantic proximity Read ↗

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

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.Semantic proximity Read ↗

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosisSemantic proximity Read ↗

Elastin mutation and cardiac disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.