Article

A female case of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid

2022-02-23

Abstract excerpt

<h4>Background: </h4> Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressing autosomal recessive genetic diseases characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP binding cassette subfamily B member 4 gene (ABCB4) encoding multidrug-resistant protein 3 (MDR3/ABCB4) protein which can lead to the absence of phosphatidylcholine, cholangiopathy, bile d...

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Literature Corpus work: 6ef8385e-bc98-5762-8e68-17b2dcd635a4
DOI: 10.21203/rs.3.rs-1374900/v1

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