Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

Na(+)‐taurocholate cotransporting polypeptide deficiency (NTCPD) is a newly described disorder arising from biallelic mutations of the SLC10A1 gene. As a result of a lack of compelling evidence from case‐control studies, its genotypic and phenotypic features remain open for in‐depth investigation. T...

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Detalles Bibliográficos
Autores principales: Deng, Li‐Jing, Ouyang, Wen‐Xian, Liu, Rui, Deng, Mei, Qiu, Jian‐Wu, Yaqub, Muhammad‐Rauf, Raza, Muhammad‐Atif, Lin, Wei‐Xia, Guo, Li, Li, Hua, Chen, Feng‐Ping, Ouyang, Ying, Huang, Yu‐Ge, Huang, Yue‐Jun, Long, Xiao‐Ling, Huang, Xiao‐Ling, Li, Shuang‐Jie, Song, Yuan‐Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Genetics and Rare Liver Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291912/
https://www.ncbi.nlm.nih.gov/pubmed/34369070
http://dx.doi.org/10.1111/liv.15031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291912/
https://www.ncbi.nlm.nih.gov/pubmed/34369070
http://dx.doi.org/10.1111/liv.15031

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