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Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
J Biol Chem. 2005 May 20;280(20):19823-8. doi: 10.1074/jbc.M500216200. Epub 2005 Mar 16.
J Biol Chem. 2005.
PMID: 15772074
Free article.
Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.
Sibert BS, Patton JR.
Sibert BS, et al.
Nucleic Acids Res. 2012 Mar;40(5):2107-18. doi: 10.1093/nar/gkr1017. Epub 2011 Nov 18.
Nucleic Acids Res. 2012.
PMID: 22102571
Free PMC article.
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