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Article

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.

Clinical and experimental dermatology - 1 May 2005

Massé M, Cserhalmi-Friedman P B, Falanga V, Celebi J T, Martinez-Mir A, Christiano A M

Abstract excerpt

In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature...

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Identifiers

PMID: 15807692
DOI: 10.1111/j.1365-2230.2005.01763.x

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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.

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