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 · 334 citations
Biochemistry, Genetics and Molecular Biology · #Biology #Gene #Gene expression #Genetics #Metabolism and Genetic Disorders #Missense mutation #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial respiratory chain #Mitochondrion #Molecular biology #Mutation #RNA #RNA editing #RNA modifications and cancer #RNA splicing #Transfer RNA

paper · pdf · doi:10.1086/521227

published in The American Journal of Human Genetics 81(4), 857-862 (Elsevier BV)

openalex publication_date 2007/09/07 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Citations

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

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