Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency

Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency

OBJECTIVE: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, OMIM #605814) is a novel autosomal recessive disease caused by mutations in the gene SLC25A13 that encodes for citrin, a liver-type aspartate/glutamate carrier located in the mitochondrial inner membrane. SLC25A13 was c...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 46(2008), 6 vom: 22. Juni, Seite 411-5
1. Verfasser: Song, Yuan-zong (VerfasserIn)
Weitere Verfasser: Sheng, Jian-sheng, Ushikai, Miharu, Hwu, Wuh-liang, Zhang, Chun-hua, Kobayashi, Keiko
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Calcium-Binding Proteins Mitochondrial Membrane Transport Proteins Organic Anion Transporters SLC25A13 protein, human citrin 1340-08-5