Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine

SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutat...

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Detalles Bibliográficos
Autores principales: Liu, Ruihong, Chen, Chuming, Xia, Xuefeng, Liao, Qijun, Wang, Qiong, Newcombe, Paul J., Xu, Shuhua, Chen, Minghui, Ding, Yue, Li, Xiaoying, Liao, Zhihong, Li, Fucheng, Du, Minlian, Huang, Huaiqiu, Dong, Ruimin, Deng, Weiping, Wang, Ye, Zeng, Binghui, Pan, Qihao, Jiang, Danhua, Zeng, Hao, Sham, Pak, Cao, Yingnan, Maxwell, Patrick H., Gao, Zhi-liang, Peng, Liang, Wang, Yiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569087/
https://www.ncbi.nlm.nih.gov/pubmed/28835676
http://dx.doi.org/10.1038/s41598-017-07012-2

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