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 |
