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Article

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Journal of medical genetics - 1 Jun 1992

Nuytinck L, Narcisi P, Nicholls A, Renard J P, Pope F M, De Paepe A

Abstract excerpt

The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained from other, non-cutaneous tissues showed two forms of collagen alpha 1(III) chains, a normal and a slow migrating,...

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Identifiers

PMID: 1619632
DOI: 10.1136/jmg.29.6.375
PMCID: PMC1015985

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SDS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.PMID 1619632Read ↗

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

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].Semantic proximity Read ↗

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.Semantic proximity Read ↗

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

Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos Syndrome Type IV skin fibroblastsSemantic proximity Read ↗

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.Semantic proximity Read ↗

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