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Publication : Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

First Author  Patton JR Year  2005
Journal  J Biol Chem Volume  280
Issue  20 Pages  19823-8
PubMed ID  15772074 Mgi Id 
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