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Article

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

Journal of medical genetics - 1 Mar 2011

van den Akker Peter C, Mellerio Jemima E, Martinez Anna E, Liu Lu, Meijer Rowdy, Dopping-Hepenstal Patricia J C, van Essen Anthonie J, Scheffer Hans, Hofstra Robert M W, McGrath John A, Jonkman Marcel F

Abstract excerpt

BACKGROUND: The inversa type of recessive dystrophic epidermolysis bullosa (RDEB-I) is a rare variant of dystrophic epidermolysis bullosa, characterised by blistering in the body flexures, trunk, and mucosa. The cause of this specific distribution is unknown. So far, 20 COL7A1 genotypes have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21113014
DOI: 10.1136/jmg.2010.082230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21113014-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.PMID 21113014Read ↗

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