Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

2007/09/07 by Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova +7 · 34 citations
Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders

paper · pdf · doi:10.1086/521227

Citations

• Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

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