Hereditary forms of intrahepatic cholestasis.
Several genes that are mutated in hereditary forms of intrahepatic cholestasis have been identified or mapped, providing new insights into the process of enterohepatic bile acid circulation in health and disease and new tools with which to study this process. Murine models of several of these disorders have been generated. Unanticipated genetic heterogeneity has been identified.
Bull
Laura N
LN
Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California 94110, USA. lbull@medsfgh.ucsf.edu
D016738:Alagille Syndrome / Q000235:genetics; D000818:Animals; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D002874:Chromosome Mapping; D006801:Humans; D008209:Lymphedema / Q000235:genetics