Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous blistering associated with congenital pyloric atresia. The disease is frequently lethal, but nonlethal cases have also been reported. Expression of the alpha6 beta4 integrin i...

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Detalhes bibliográficos
Main Authors: Pulkkinen, L, Rouan, F, Bruckner-Tuderman, L, Wallerstein, R, Garzon, M, Brown, T, Smith, L, Carter, W, Uitto, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377547/
https://ncbi.nlm.nih.gov/pubmed/9792864
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