Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report

BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which encodes citrin protein expressed in the liver, have been ide...

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Detalles Bibliográficos
Autores principales: Zhang, Linlin, Li, Yingying, Shi, Wenli, Gao, Jinshuang, Tian, Yuan, Li, Ying, Guo, Yaqing, Cui, Shihong, Zhang, Xiaoan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790242/
https://www.ncbi.nlm.nih.gov/pubmed/31607264
http://dx.doi.org/10.1186/s12887-019-1751-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790242/
https://www.ncbi.nlm.nih.gov/pubmed/31607264
http://dx.doi.org/10.1186/s12887-019-1751-9

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