Genetic Analysis of <i>ABCB4</i> Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis
Clinical studies have revealed that the <i>ABCB4</i> gene encodes the phospholipid transporter on the canalicular membrane of hepatocytes, and its mutations and variants are the genetic basis of low phospholipid-associated cholelithiasis (LPAC), a rare type of gallstone disease caused by...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-06-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/13/6/1047 |