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Article

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes - 11 Jun 2022

Wang Helen H, Portincasa Piero, Liu Min, Wang David Q-H

Abstract excerpt

Clinical studies have revealed that the ABCB4 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 a single-gene mutation or variation. The main features of LPAC include a reduction or deficiency of phospholipids in bile, symptomatic...

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Share to ATP Binding Cassette Transporter, Subfamily B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35741809
DOI: 10.3390/genes13061047
PMCID: PMC9222727

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