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...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 46(2008), 6 vom: 22. Juni, Seite 411-5 |
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| Auteur principal: | |
| Autres auteurs: | , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2008
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | 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 |