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progressive familial intrahepatic cholestasis type 3

MIM.602347

Monday 21 November 2011

Progressive familial intrahepatic cholestasis-3 (PFIC3) is caused by mutation in the gene encoding the class III multidrug resistance (MDR3) P-glycoprotein (ABCB4; MIM.171060).

See also

- progressive familial intrahepatic cholestasis (PFICs)

References

- Degiorgio, D., Colombo, C., Seia, M., Porcaro, L., Costantino, L., Zazzeron, L., Bordo, D., Coviello, D. A. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Europ. J. Hum. Genet. 15: 1230-1238, 2007. [PubMed: 17726488]

- Deleuze, J.-F., Jacquemin, E., Dubuisson, C., Cresteil, D., Dumont, M., Erlinger, S., Bernard, O., Hadchouel, M. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 23: 904-908, 1996. [PubMed: 8666348]

- de Vree, J. M. L., Jacquemin, E., Sturm, E., Cresteil, D., Bosma, P. J., Aten, J., Deleuze, J.-F., Desrochers, M., Burdelski, M., Bernard, O., Oude Elferink, R. P. J., Hadchouel, M. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc. Nat. Acad. Sci. 95: 282-287, 1998. [PubMed: 9419367]

- Jacquemin, E., Cresteil, D., Manouvrier, S., Boute, O., Hadchouel, M. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 353: 210-211, 1999. [PubMed: 9923886]