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Article

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.

Heart and vessels - 1 Mar 2008

Lee Seung-Tae, Kim Jee-Ah, Jang Shin-Yi, Kim Duk-Kyung, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

A considerable proportion of aortic aneurysms are shown to have genetic backgrounds. The COL3A1 gene, which encodes type III procollagen and causes Ehlers-Danlos syndrome (EDS) type IV, is one of the candidate genes associated with aortic aneurysms. The COL3A1 gene is also associated with cervical artery dissections (CAD) mostly as a part of manifestations of EDS type IV. We describe a 34-year-old Korean woman...

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Source

Identifiers

PMID: 18389341
DOI: 10.1007/s00380-007-1027-4

Genes

CAD

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.

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A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.PMID 18389341Read ↗

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Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.Semantic proximity Read ↗

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

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

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

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Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.Semantic proximity Read ↗

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