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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Xehetasun bibliografikoak
Argitaratua izan da:Nat Commun
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
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Article
Sarrera elektronikoa: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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