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Article

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

American journal of human genetics - 1 Oct 1991

Ryynänen M, Knowlton R G, Parente M G, Chung L C, Chu M L, Uitto J

Abstract excerpt

Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering disorders affecting the skin and the mucous membranes. Previous ultrastructural studies on the dystrophic (scarring) forms of EB have demonstrated abnormalities in the anchoring fibrils, morphologically distinct structures below the basal lamina at the dermal/epidermal basement membrane zone. Type VII collagen is the major collagenous...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1680286
PMCID: PMC1683160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.PMID 1680286Read ↗

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

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

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

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.Semantic proximity Read ↗

Dystrophic forms of epidermolysis bullosa.Semantic proximity Read ↗

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.Semantic proximity Read ↗

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

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 ↗

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