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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Publicado en:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5569087/
https://ncbi.nlm.nih.gov/pubmed/28835676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-07012-2
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