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

2004/05/10 by Yelena Bykhovskaya, Kari Casas, Emebet Mengesha +3 · 29 citations
Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Biochemical and Molecular Research #Mitochondrial Function and Pathology

paper · pdf · doi:10.1086/421530

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