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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Bibliografiska uppgifter
Huvudupphovsmän: Pulkkinen, L, Rouan, F, Bruckner-Tuderman, L, Wallerstein, R, Garzon, M, Brown, T, Smith, L, Carter, W, Uitto, J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1998
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377547/
https://ncbi.nlm.nih.gov/pubmed/9792864
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