Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg)

Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by solute carrier family 10 member 1 (SLC10A1), is expressed in the basolateral membrane of hepatocytes, where it is responsible for the uptake of bile acids from plasma into hepatocytes. The first patient with NTCP def...

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Detalles Bibliográficos
Autores principales: Li, Hua, Deng, Mei, Guo, Li, Qiu, Jian-Wu, Lin, Gui-Zhi, Long, Xiao-Ling, Xiao, Xiao-Min, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854589/
https://www.ncbi.nlm.nih.gov/pubmed/31661128
http://dx.doi.org/10.3892/mmr.2019.10763

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854589/
https://www.ncbi.nlm.nih.gov/pubmed/31661128
http://dx.doi.org/10.3892/mmr.2019.10763

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