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R. Belostotsky, E. Ben-Shalom, C. Rinat, R. Becker-Cohen, S. Feinstein, S. Zeligson, R. Segel, O. Elpeleg, S. Nassar and Y. Frishberg, “Mutations in the Mitochondrial seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome,” The American Journal of Human Genetics, Vol. 88, No. 2, 2011, pp. 193-200. doi:10.1016/j.ajhg.2010.12.010

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