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Mutations in Bile Salt Export Pump (ABCB11) in Two Children with Progressive Familial Intrahepatic Cholestasis and Cholangiocarcinoma

✍ Scribed by A.O. Scheimann; S.S. Strautnieks; A.S. Knisely; J.A. Byrne; R.J. Thompson; M.J. Finegold


Book ID
113743970
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
659 KB
Volume
150
Category
Article
ISSN
1097-6833

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The bile salt export pump (Bsep) represents the major bile salt transport system at the canalicular membrane of hepatocytes. When examined in model cell lines, genetic mutations in the BSEP gene impair its targeting and transport function, contributing to the pathogenesis of progressive familial int