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Article

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

Human mutation - 1 Jan 1997

Järvikallio A, Pulkkinen L, Uitto J

Abstract excerpt

Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level of tissue separation. In the dystrophic forms of EB (DEB), tissue separation occurs below the lamina densa within...

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Identifiers

PMID: 9375848
DOI: 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).PMID 9375848Read ↗

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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Semantic proximity Read ↗

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Semantic proximity Read ↗

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Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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