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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Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2017
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Article
Linkit: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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