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 st...

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Detalles Bibliográficos
Autores principales: Li, Hua, Chen, Rong, Lin, Gui-Zhi, Lin, Wei-Xia, Yaqub, Muhammad-Rauf, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9091302/
https://www.ncbi.nlm.nih.gov/pubmed/35571010
http://dx.doi.org/10.3389/fgene.2022.874379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9091302/
https://www.ncbi.nlm.nih.gov/pubmed/35571010
http://dx.doi.org/10.3389/fgene.2022.874379

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