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Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

27 Sept 2016

Abstract excerpt

The human solute carrier family 10 member 1 (SLC10A1) gene encodes sodium taurocholate cotransporting polypeptide (NTCP), the principal transporter of conjugated bile salts from the plasma into hepatocytes. Although the function of NTCP has been studied extensively and a number of SLC10A1 variations have been identified in humans, information regarding NTCP deficiency is limited. To date, only one patient with...

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PMID: 27882152
DOI: 10.3892/etm.2016.3752

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