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

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 so far. In this stud...

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Váldodahkkit:	Hua Li, Rong Chen, Gui-Zhi Lin, Wei-Xia Lin, Muhammad-Rauf Yaqub, Yuan-Zong Song
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Frontiers Media S.A. 2022-04-01
Ráidu:	Frontiers in Genetics
Fáttát:	NTCP deficiency epidemiology SLC10A1 gene Guangdong prevalent variants
Liŋkkat:	https://www.frontiersin.org/articles/10.3389/fgene.2022.874379/full
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