Articles with "abcb4 mutations" as a keyword



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

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Published in 2022 at "Genes"

DOI: 10.3390/genes13061047

Abstract: 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… read more here.

Keywords: abcb4; low phospholipid; abcb4 mutations; cholelithiasis ... See more keywords