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Article

[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].

Annales de dermatologie et de venereologie - 1 May 2015

Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros M-P, Puzenat E, Chantegret C, Vabres P, Lacour J-P, Aubin F

Abstract excerpt

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis characterized by various abnormalities of anchoring fibrils, composed mainly of type VII collagen, at the dermal-epidermal junction. These changes are induced by mutations in the type VII collagen gene (COL7A1). PATIENTS AND M...

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Identifiers

PMID: 25683012
DOI: 10.1016/j.annder.2015.01.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25683012-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].PMID 25683012Read ↗

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