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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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Zhang, Linlin, Li, Yingying, Shi, Wenli, Gao, Jinshuang, Tian, Yuan, Li, Ying, Guo, Yaqing, Cui, Shihong, Zhang, Xiaoan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6790242/
https://ncbi.nlm.nih.gov/pubmed/31607264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1751-9
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