De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report

BACKGROUND: Sodium taurocholate cotransport polypeptide (NTCP) deficiency disease is a genetic metabolic disorder due to mutations in the SLC10A1 gene and impaired bile acid salt uptake by the basolateral membrane transport protein NTCP in hepatocytes. A variety of clinical manifestations and geneti...

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Detalles Bibliográficos
Autores principales: Liu, Hui-Yan, Li, Meng, Li, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717514/
https://www.ncbi.nlm.nih.gov/pubmed/35071582
http://dx.doi.org/10.12998/wjcc.v9.i36.11487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717514/
https://www.ncbi.nlm.nih.gov/pubmed/35071582
http://dx.doi.org/10.12998/wjcc.v9.i36.11487

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