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Article

Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.

The Journal of investigative dermatology - 1 Sept 1995

Kuivaniemi H, Tromp G, Bergfeld W F, Kay M, Helm T N

Abstract excerpt

The Ehlers-Danlos syndrome has been classified into nine phenotypic presentations. Type IV is a variant of particular importance because people affected with this genodermatosis are at great risk of spontaneous hemorrhage from vascular rupture or bowel perforation. Recent molecular advances have identified mutations in the gene for type III procollagen as responsible for Ehlers-Danlos syndrome type IV. We report...

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Identifiers

PMID: 7665911
DOI: 10.1111/1523-1747.ep12320704

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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

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Research trail→

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Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.PMID 7665911Read ↗

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.Semantic proximity Read ↗

Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management.Semantic proximity Read ↗

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.Semantic proximity Read ↗

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Semantic proximity Read ↗

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

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

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.Semantic proximity Read ↗

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).Semantic proximity Read ↗

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.Semantic proximity Read ↗

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