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Article

Homozygous Gly530Ser substitution in <i>COL5A1</i> causes mild classical Ehlers‐Danlos syndrome

16 Apr 2002

Abstract excerpt

Skin hyperelasticity, tissue fragility with atrophic scars, and joint hypermobility are characteristic for the classical type of Ehlers-Danlos syndrome (EDS). The disease is usually inherited as an autosomal dominant trait; however, recessive mode of inheritance has been documented in tenascin-X-deficient EDS patients. Mutations in the genes coding for collagen alpha1(V) chain (COL5A1), collagen alpha2(V) chain...

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PMID: 11992482
DOI: 10.1002/ajmg.10373

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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.

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Homozygous Gly530Ser substitution in <i>COL5A1</i> causes mild classical Ehlers‐Danlos syndromePMID 11992482Read ↗

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