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Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile ...
Saskia van Mil +2 more
exaly +2 more sources
Background&Aims: The mechanisms by which mutations in the familial intrahepatic cholestasis-1 gene cause Byler's disease (progressive familial intrahepatic cholestasis type :1) are unknown. Methods: Interactions among the apical sodium-dependent bile
Sandra S Strautnieks +1 more
exaly +2 more sources
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Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
Gastroenterology, 2004Saskia van Mil, Leo W J Klomp
exaly

