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Article

Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.

European journal of dermatology : EJD - 1 Jan 2000

von Bartenwerffer Wibke, Has Cristina, Arin Meral J, Tantcheva-Poór Iliana, Kreuter Alexander, Kremer Kim, Arshah Tarek, Hoffmann Michael, Eming Sabine A, Kohlhase Jürgen, Krieg Thomas, Bruckner-Tuderman Leena, Hartmann Karin

Abstract excerpt

Dystrophic epidermolysis bullosa is a group of inherited skin blistering disorders caused by mutations in the COL7A1 gene coding for type VII collagen. More than 500 different COL7A1 mutations have been detected in dystrophic epidermolysis bullosa to date. Clarification of genotype-phenotype corr...

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Source

Identifiers

PMID: 21382783
DOI: 10.1684/ejd.2010.1247

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21382783-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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