Gene: [18q21/FIC1] familial intrahepatic cholestasis 1; benign recurrent intrahepatic cholestasis (BRIC; MIM:243300); progressive familial intrahepatic cholestasis 1, Byler disease (PFIC1; MIM:211600); [BRIC PFIC1 ]

REL

GEM:02q24/PFIC2.

REF

MUT "Bull LN &: Nature Genet, 18, N3, 219-224, 1998
PAT,LOC,LIN "Carlton VEH &: Hum Mol Genet, 4, N6, 1049-1053, 1995
LIN,LOC "De Koning TJ &: Am J Med Genet, 57, N3, 479-482, 1995
LIN,LOC "Houwen RH &: Nature Genet, 8, 380-386, 1994
LIN,LOC "Overhauser J &: CCG, 71, N2, 106-107, 1995

KEY

git, devd

CLA

unknown, basic

LOC

18 q21

MIM

MIM: 602397

SYN

BRIC PFIC1