Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

doi:10.1093/hmg/6.7.1125

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Article

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

Human molecular genetics - 1 Jul 1997

Winberg J O, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor S L, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T, Bruckner-Tuderman L

Abstract excerpt

Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence. EBD has been linked to the COL7A1 gene at chromosome 3p21 which encodes collagen VII, the major component of the AF. Here we...

Topics

Adolescent
Adult
Alleles
Child
Collagen
Epidermolysis Bullosa Dystrophica
Female
Fluorescent Antibody Technique, Indirect
Genes, Dominant
Genes, Recessive
Haplotypes
Humans
Infant
Infant, Newborn

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microscopy, Electron

Middle Aged

Molecular Sequence Data

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Open in PubMed

Identifiers

PMID: 9215684
DOI: 10.1093/hmg/6.7.1125

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9215684-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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