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Article

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

BMC medical genetics - 29 Sept 2010

Cuadrado-Corrales Natividad, Sánchez-Jimeno Carolina, García Marta, Escámez María-José, Illera Nuria, Hernández-Martín Angela, Trujillo-Tiebas María-José, Ayuso Carmen, Del Rio Marcela

Abstract excerpt

BACKGROUND: Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20920254
DOI: 10.1186/1471-2350-11-139
PMCID: PMC2957067

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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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