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Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

22 Mar 2018

Abstract excerpt

Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid‐associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on...

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PMID: 29761167
DOI: 10.1002/hep4.1149

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