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

• Prif Awduron: Linlin Zhang (Awdur), Yingying Li (Awdur), Wenli Shi (Awdur), Jinshuang Gao (Awdur), Yuan Tian (Awdur), Ying Li (Awdur), Yaqing Guo (Awdur), Shihong Cui (Awdur), Xiaoan Zhang (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2019-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Abstract 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...