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Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia

Sodium taurocholate cotransporting polypeptide (NTCP) is encoded by the gene SLC10A1 and expressed in the basolateral membrane of the hepatocyte, functioning to uptake bile acids from plasma. Although SLC10A1 has been cloned and NTCP function studied intensively for years, clinical description of NT...

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Detalles Bibliográficos
Autores principales: Qiu, Jian-Wu, Deng, Mei, Cheng, Ying, Atif, Raza-Muhammad, Lin, Wei-Xia, Guo, Li, Li, Hua, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739759/
https://www.ncbi.nlm.nih.gov/pubmed/29290974
http://dx.doi.org/10.18632/oncotarget.22503