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

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.

Molecular genetics & genomic medicine - 1 Sept 2023

Heo Won Young, Jang Shin Yi, Park Taek Kyu, Ki Chang-Seok, Kim Jong-Won, Kim Duk-Kyung, Jang Ja-Hyun

Abstract excerpt

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splicing alterations are not uncommon in COL3A1. We report 2 patients with vEDS who were not diagnosed by conventional Sanger sequencing. METHODS: We performed either targeted panel...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type III
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37461200
DOI: 10.1002/mgg3.2240
PMCID: PMC10496071

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.PMID 37461200Read ↗

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.Semantic proximity Read ↗

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.Semantic proximity Read ↗

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.Semantic proximity Read ↗

A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.Semantic proximity Read ↗

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.Semantic proximity Read ↗

Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database.Semantic proximity Read ↗

Novel compound heterozygous COL3A1 variants are associated with Vascular Ehlers-Danlos SyndromeSemantic proximity Read ↗

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 geneSemantic proximity Read ↗

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.Semantic proximity Read ↗

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.Semantic proximity Read ↗

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Semantic proximity Read ↗

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