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Article

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

Human mutation - 1 Jan 1997

Christiano A M, Hoffman G G, Zhang X, Xu Y, Tamai Y, Greenspan D S, Uitto J

Abstract excerpt

The diagnostic hallmark of the dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering skin diseases, is abnormalities in the anchoring fibrils at the dermal-epidermal basement membrane zone. Since type VII collagen is the major, if not the exclusive, component of the anc...

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Source

Identifiers

PMID: 9375858
DOI: 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9375858-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.PMID 9375858Read ↗

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A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).Semantic proximity Read ↗

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Novel and recurrent COL7A1 mutation in a Polish population.Semantic proximity Read ↗

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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