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Article

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.

Human mutation - 1 Jan 1998

Bateman J F, Chiodo A A, Weng Y M, Chan D, Haan E

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

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Source

Identifiers

PMID: 9452103
DOI: 10.1002/humu.1380110182

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

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.PMID 9452103Read ↗

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 ↗

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

Mutations in type IV collagen genes and Alport phenotypes.Semantic proximity Read ↗

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

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.Semantic proximity Read ↗

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler SyndromeSemantic proximity Read ↗

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

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.Semantic proximity Read ↗

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.Semantic proximity Read ↗

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