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4. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Demeilliers C; Jacquemin E; Barbu V; Mergey M; Paye F; Fouassier L; Chignard N; Housset C; Lomri NE Hepatology; 2006 May; 43(5):1125-34. PubMed ID: 16628629 [TBL] [Abstract][Full Text] [Related]
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10. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. van Mil SW; Klomp LW; Bull LN; Houwen RH Semin Liver Dis; 2001 Nov; 21(4):535-44. PubMed ID: 11745041 [TBL] [Abstract][Full Text] [Related]
11. Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. van der Velden LM; Stapelbroek JM; Krieger E; van den Berghe PV; Berger R; Verhulst PM; Holthuis JC; Houwen RH; Klomp LW; van de Graaf SF Hepatology; 2010 Jan; 51(1):286-96. PubMed ID: 19918981 [TBL] [Abstract][Full Text] [Related]
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16. A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1. Numakura C; Abukawa D; Kimura T; Tanabe S; Hayasaka K Pediatr Int; 2011 Feb; 53(1):107-10. PubMed ID: 21342337 [No Abstract] [Full Text] [Related]
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18. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Bull LN; van Eijk MJ; Pawlikowska L; DeYoung JA; Juijn JA; Liao M; Klomp LW; Lomri N; Berger R; Scharschmidt BF; Knisely AS; Houwen RH; Freimer NB Nat Genet; 1998 Mar; 18(3):219-24. PubMed ID: 9500542 [TBL] [Abstract][Full Text] [Related]
20. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]