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Article

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

The Journal of investigative dermatology - 1 Aug 1997

Mellerio J E, Dunnill M G, Allison W, Ashton G H, Christiano A M, Uitto J, Eady R A, McGrath J A

Abstract excerpt

Mutations in the type VII collagen gene (COL7A1) are known to underlie different forms of the inherited blistering skin disease dystrophic epidermolysis bullosa (DEB). Most COL7A1 mutations are unique to individual families, and therefore it is usually necessary to screen all 118 exons of the gen...

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PMID: 9242516
DOI: 10.1111/1523-1747.ep12319792

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9242516-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.PMID 9242516Read ↗

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Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Semantic proximity Read ↗

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.Semantic proximity Read ↗

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The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.Semantic proximity Read ↗

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