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Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum γ-glutamyltransferase. Immunohistochemical...

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Detalhes bibliográficos
Main Authors: Treepongkaruna, Suporn, Gaensan, Amornphun, Pienvichit, Paneeya, Luksan, Ondrej, Knisely, AS, Sornmayura, Pattana, Jirsa, Milan
Formato: Artigo
Idioma:Inglês
Publicado em: The WJG Press and Baishideng 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2744194/
https://ncbi.nlm.nih.gov/pubmed/19750581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.15.4339
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