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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

Nature genetics - 1 May 1993

Christiano A M, Greenspan D S, Hoffman G G, Zhang X, Tamai Y, Lin A N, Dietz H C, Hovnanian A, Uitto J

Abstract excerpt

Recessive dystrophic epidermolysis bullosa is a severe mutilating genodermatosis. Previous ultrastructural demonstrations of altered anchoring fibrils, and recent genetic linkage analyses have suggested that type VII collagen, the major component of anchoring fibrils, is a candidate gene. We have identified a homozygous methionine-to-lysine mutation in two affected siblings, while their unaffected mother and...

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PMID: 8513326
DOI: 10.1038/ng0593-62

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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.PMID 8513326Read ↗

Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.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 ↗

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.Semantic proximity Read ↗

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Semantic proximity Read ↗

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.Semantic proximity Read ↗

Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.Semantic proximity Read ↗

Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.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 ↗

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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