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Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.874379

Abstract: Na+-taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder arising from biallelic SLC10A1 mutations. As a newly-described inborn error of bile acid metabolism, the epidemiology of this condition remains largely unclear in Chinese population… read more here.

Keywords: taurocholate cotransporting; guangdong province; cotransporting polypeptide; epidemiology ... See more keywords