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

Human mutation - 1 Jan 2001

Dedic J, Weiss A S, Katahira J, Yu B, Trent R J, Urbán Z

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cytosine
Share to Elastin
Share to Exons
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myocardial Infarction

Share to Nuclear Family

Share to Point Mutation

Share to Sequence Deletion

Source

Identifiers

PMID: 11139266
DOI: 10.1002/1098-1004(2001)17:1<81::AID-HUMU30>3.0.CO;2-X

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.PMID 11139266Read ↗

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

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

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

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

Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.Semantic proximity Read ↗

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

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

Elastin-driven genetic diseases.Semantic proximity Read ↗

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.Semantic proximity Read ↗

Supravalvular Aortic StenosisSemantic proximity Read ↗

Elastin mutation and cardiac disease.Semantic proximity Read ↗

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