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Article

The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II

1 Jun 1996

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8752669
DOI: 10.1111/1523-1747.ep12348978

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/IIPMID 8752669Read ↗

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Semantic proximity Read ↗

Human collagen gene COL5A1 maps to the q34.2→q34.3 region of chromosome 9, near the locus for nail-patella syndromeSemantic proximity Read ↗

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.Semantic proximity Read ↗

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.Semantic proximity Read ↗

Organization and expression of basement membrane collagen IV genes and their roles in human disorders.Semantic proximity Read ↗

The Pro-α3(V) Collagen ChainSemantic proximity Read ↗

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

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

[An absence of the collagen type IV alpha5 chain in Alport Syndrome].Semantic proximity Read ↗

A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.Semantic proximity Read ↗

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.Semantic proximity Read ↗

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