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Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Klomp LW, et al. Among authors: van der brugge g, van mil sw, van eijk mj. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Hepatology. 2004. PMID: 15239083
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW. van Mil SW, et al. Among authors: van den berg ie, van der woerd wl, van der brugge g. Gastroenterology. 2004 Aug;127(2):379-84. doi: 10.1053/j.gastro.2004.04.065. Gastroenterology. 2004. PMID: 15300568
54 results