A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.

doi:10.1038/ng1193-287

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Article

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.

Nature genetics - 1 Nov 1993

Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano A M, Barrandon Y, Uitto J, Goossens M

Abstract excerpt

The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a life-threatening autosomal disease characterized by loss of dermal-epidermal adherence with abnormal anchoring fibrils (AF). We recently linked HS-RDEB to the type VII collagen gene (COL7A1) which encodes the...

Topics

Base Sequence
Blotting, Northern
Blotting, Western
Cells, Cultured
Child, Preschool
Collagen
DNA Transposable Elements
DNA, Complementary
Epidermolysis Bullosa Dystrophica
Fluorescent Antibody Technique
Humans
Male
Microscopy, Electron
Molecular Sequence Data

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymorphism, Genetic

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8275094
DOI: 10.1038/ng1193-287

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8275094-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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