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

Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal cholestasis from two unrelated families.

Saved in:

Bibliographic Details
Main Authors:	Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore
Format:	article
Language:	EN
Published:	Nature Portfolio 2016
Subjects:	Science Q
Online Access:	https://doaj.org/article/e73281ebd5d34ed788509187b61992e0
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

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

Similar Items