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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

BACKGROUND: The dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both autosomal dominant and autosomal recessive inheritance can be recognised. DEB is derived from mutations in the type VII collagen gene (COL7A1...

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Detalhes bibliográficos
Main Authors: Varki, Roslyn, Sadowski, Sara, Uitto, Jouni, Pfendner, Ellen
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598021/
https://ncbi.nlm.nih.gov/pubmed/16971478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045302
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