Article
Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression.
Human genetics - 1 May 2009
Renner Olga, Harsch Simone, Schaeffeler Elke, Schwab Matthias, Klass Dietmar M, Kratzer Wolfgang, Stange Eduard F
Abstract excerpt
The apical sodium-dependent bile acid transporter (SLC10A2) plays a key role in the reabsorption of luminal bile acids into the enterohepatic circulation. Rare variations in SLC10A2 have been reported to be associated with Crohn's disease, primary bile acid malabsorption and familial hypertriglyceridemia; however, variants associated with reduced SLC10A2 expression have not been reported to date. In this study,...
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