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Article

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

1 Sept 1992

Abstract excerpt

Generalized mutilating recessive dystrophic epidermolysis bullosa (RDEB) is characterized by extreme skin fragility owing to loss of dermal-epidermal adherence. Immunohistochemical studies have implicated type VII collagen, the major component of anchoring fibrils, in the etiology of RDEB. In this study, we demonstrate genetic linkage of the type VII collagen gene and the generalized mutilating RDEB phenotype. We...

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Identifiers

PMID: 1355776
DOI: 10.1172/jci115916

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.PMID 1355776Read ↗

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.Semantic proximity Read ↗

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.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 ↗

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

Dystrophic forms of epidermolysis bullosa.Semantic proximity Read ↗

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.Semantic proximity Read ↗

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.Semantic proximity Read ↗

Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

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