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Paper Details

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Nat Commun
182
2016
ABCB11, FXR, NR1H4, NR1H4-related cholestasis, Neonatal cholestasis, bile acid, bile salt, end-stage, familial intrahepatic cholestasis, farnesoid X receptor, liver bile salt export pump, liver disease, neonatal cholestasis, nuclear bile acid receptor FXR, serum alpha-fetoprotein, serum gamma-glutamyl transferase, vitamin K, vitamin K-independent coagulopathy
Author NameAffiliation
Kandamurugu ManickamNationwide Children's Hospital
Jennifer PicarsicUniversity of Pittsburgh School of Medicine
Theodora JacobsonNationwide Children's Hospital
Pengfei LiuBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Sharon E PlonBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Yaping YangBaylor College of Medicine
Matthew H PorteusStanford University Medical Center
Ravinder J SinghCollege of Medicine, Mayo Clinic
Gregory M EnnsLucile Packard Children's Hospital, Stanford University Medical Center
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