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Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

UrologyMitochondrial BiogenesisMitochondrial FunctionGenetic DisorderMedicineGeneticsPhysiologyInherited Metabolic DiseaseHupra SyndromeRenal FailurePulmonary HypertensionMolecular GeneticsMitochondrial MedicineMetabolismChronic Kidney Disease