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Article

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

Pediatric dermatology - 1 Jan 2000

Kahofer Peter, Bruckner-Tuderman Leena, Metze Dieter, Lemmink Henny, Scheffer Hans, Smolle Josef

Abstract excerpt

Epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and mucosal areas thereafter. Ultrastructural findings show dermolytic blistering and absent or rudimentary anchoring fibrils as in generalized forms of dystrophic...

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Share to Biopsy, Needle
Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type VII

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Share to Fluorescent Antibody Technique, Indirect

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Source

Identifiers

PMID: 12787275
DOI: 10.1046/j.1525-1470.2003.20312.x

Genes

GDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.PMID 12787275Read ↗

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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 ↗

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COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only.Semantic proximity Read ↗

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

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