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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Nat Commun
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky