| 1 | ABCB4, PFIC3
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| Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
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| Gordo-Gilart R, Andueza S, Hierro L, Martínez-Fernández P, D'Agostino D, Jara P, Alvarez L.
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| Gut ut. 2014 Mar 4. doi: 10.1136/gutjnl-2014-306896. [Epub ahead of print]
2014
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| 2 | ABCB4, PFIC3
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| Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
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| Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis.
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| J Pediatr Gastroenterol Nutr 52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363.
2011
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| 3 | ABCB4, PFIC3
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| The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
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| Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.
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| Semin Liver Dis 30(2):134-46. doi: 10.1055/s-0030-1253223. Epub 2010 Apr 26. Review.
2010
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| 4 | ABCB4, PFIC3
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| ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
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| Bacq Y, Gendrot C, Perrotin F, Lefrou L, Chrétien S, Vie-Buret V, Brechot MC, Andres CR.
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| J Med Genet 46(10):711-5. Epub 2009 Jul 6. 2009
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| 5 | PFIC3, ABCB4
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| Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
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| Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA.
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| Eur J Hum Genet 15(12):1230-8. Epub 2007 Aug 29. 2007
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| 6 | ABCB4, PFIC3
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| Farnesoid X receptor activates transcription of the phospholipid pump MDR3.
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| Huang L, Zhao A, Lew JL, Zhang T, Hrywna Y, Thompson JR, de Pedro N, Royo I, Blevins RA, Pelaez F, Wright SD, Cui J.
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| J Biol Chem 278(51):51085-90. Epub 2003 Oct 2. 2003
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| 7 | ABCB4, PFIC3
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| Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
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| Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C.
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| Hum Mol Genet 9(8):1209-17. 2000
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| 8 | PFIC3, ABCB4
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| Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
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| de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M.
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| Proc Natl Acad Sci U S A 95(1):282-7. 1998
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