Abstract
Citrin is a mitochondrial aspartate/glutamate carrier whose deficiency causes adult-onset type II citrullinemia (CTLN2; OMIM #603471) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD; OMIM #605814).
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CITATION STYLE
APA
Saheki, T., Kobayashi, K., Iijima, M., Mil, M. A., Begum, L., Li, M. X., … Horiuchi, M. (2003). Citrin deficiency. In Encephalopathy and Nitrogen Metabolism in Liver Failure (pp. 31–40). Springer Netherlands. https://doi.org/10.1007/978-94-010-0159-5_4
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