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Article

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum

24 Oct 2018

Abstract excerpt

Abstract ATP-binding cassette subfamily B member 4 (ABCB4) is a phospholipid translocator at the canalicular membrane of the hepatocyte, which “flops” phosphatidylcholine into bile. Dysfunction of this transporter due to ABCB4 gene variants can cause liver diseases and has been called ABCB4 deficiency. Several diseases including progressive familial intrahepatic cholestasis type 3 (PFIC3), low...

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PMID: 30357767
DOI: 10.1055/s-0038-1667299

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