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Article

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

Human mutation - 1 Jun 2009

Mitchell Anna L, Schwarze Ulrike, Jennings Jessica F, Byers Peter H

Abstract excerpt

Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. The majority of affected individuals have alterations in 1 of the 2 type V collagen genes, COL5A1 and COL5A2. The most common mechanism is COL5A1 haploinsufficiency due to instability of the transcript of one allele. In dermal fibroblasts from our population of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19370768
DOI: 10.1002/humu.21000
PMCID: PMC3827857

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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