A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

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Mitochondrial disease—an important cause of end-stage renal failure

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Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood

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

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Recent Advances in the Genetics of Mitochondrial Encephalopathies

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A method and server for predicting damaging missense mutations

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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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