A Novel Variant in Compound Heterozygosity: BRIC2 or PFIC2?
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References
1.
Kubitz R, Droge C, Stindt J, Weissenberger K, Haussinger D
. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol. 2012; 36(6):536-53.
DOI: 10.1016/j.clinre.2012.06.006.
View
2.
van Mil S, van der Woerd W, van der Brugge G, Sturm E, Jansen P, Bull L
. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004; 127(2):379-84.
DOI: 10.1053/j.gastro.2004.04.065.
View
3.
Kubitz R, Keitel V, Scheuring S, Kohrer K, Haussinger D
. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol. 2006; 40(2):171-5.
DOI: 10.1097/01.mcg.0000196406.15110.60.
View
4.
Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K
. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2003; 36(5):647-50.
DOI: 10.1097/00005176-200305000-00012.
View
5.
Wang N, Li L, Wu B, Gong J, Abuduxikuer K, Li G
. The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. PLoS One. 2016; 11(4):e0153114.
PMC: 4822785.
DOI: 10.1371/journal.pone.0153114.
View