A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

doi:10.1093/hmg/3.9.1617

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Article

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Human molecular genetics - 1 Sept 1994

Narcisi P, Richards A J, Ferguson S D, Pope F M

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue. The type III variety is characterized by joint hypermobility and minor hyperextensibility and softness of the skin. While collagen fibril structure has been shown to be abnormal in such patients, the underlying molecular defect(s) has not been determined. Here we characterize the first mutation found in a family...

Topics

Adult
Amino Acid Sequence
Base Sequence
Child, Preschool
Cloning, Molecular
Collagen
DNA, Complementary
Ehlers-Danlos Syndrome
Female
Humans
Joints

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 7833919
DOI: 10.1093/hmg/3.9.1617

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7833919-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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