Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a clinically and genetically heterogeneous autosomal recessive blistering disorder, including lethal and nonlethal variants. Recently, expression of alpha6beta4 integrin, a transmembrane protein of the epithelial basement membranes,...

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Detalles Bibliográficos
Autores principales: Pulkkinen, L., Kim, D. U., Uitto, J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1858138/
https://ncbi.nlm.nih.gov/pubmed/9422533
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