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Article

Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.

Experimental dermatology - 1 Dec 1997

Cserhalmi-Friedman P B, Karpati S, Horvath A, Christiano A M

Abstract excerpt

Epidermolysis bullosa (EB) represents a group of genodermatoses characterized by fragility and easy blistering of the skin. In the dystrophic forms of EB (DEB), blisters occur below the basement membrane, at the level of the anchoring fibrils. In the dominantly inherited forms (DDEB), the predominant type of mutation detected thus far is the substitution of a glycine residue which occurs within the collagenous...

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Identifiers

PMID: 9412818
DOI: 10.1111/j.1600-0625.1997.tb00177.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.PMID 9412818Read ↗

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Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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