Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated familie...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4759630/
https://ncbi.nlm.nih.gov/pubmed/26888176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms10713
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