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Article

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

The Journal of investigative dermatology - 1 Nov 1992

Gruis N A, Bavinck J N, Steijlen P M, van der Schroeff J G, van Haeringen A, Happle R, Mariman E, van Beersum S E, Uitto J, Vermeer B J

Abstract excerpt

Epidermolysis bullosa is a heterogeneous group of heritable blistering skin diseases affecting epidermis and the dermal-epidermal junction zone. Recently, genetic linkage to the type VII collagen gene (Z = 8.77; theta = 0.00) localized on chromosome 3p21 was shown in three Finnish families with t...

Topics

Collagen
DNA
Epidermolysis Bullosa Dystrophica
Female
Genes, Dominant
Genetic Linkage
Humans
Male
Netherlands
Nucleic Acid Hybridization
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1358979
DOI: 10.1111/1523-1747.ep12658066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1358979-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.PMID 1358979Read ↗

Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.Semantic proximity Read ↗

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

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

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 ↗

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Semantic proximity Read ↗

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive 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 ↗

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

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

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