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A novel mutation within a transmembrane helix of the bile salt export pump (<scp>BSEP</scp>,<i><scp>ABCB</scp>11</i>) with delayed development of cirrhosis

16 May 2013

Abstract excerpt

BACKGROUND & AIMS: The bile salt export pump (BSEP, ABCB11) is essential for bile salt secretion at the canalicular membrane of liver cells. Clinical phenotypes associated with BSEP mutations are commonly categorized as benign recurrent intrahepatic cholestasis (BRIC-2) or progressive familial intrahepatic cholestasis (PFIC-2). METHODS: The molecular basis of BSEP-associated liver disease in a sibling pair was...

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PMID: 23758865
DOI: 10.1111/liv.12217

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