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- jmg.2006.045252 doi "10.1136/jmg.2006.045252".
- jmg.2006.045252 isCitedBy PUS1.
- jmg.2006.045252 issue "3".
- jmg.2006.045252 journal "J. Med. Genet.".
- jmg.2006.045252 pages "173–80".
- jmg.2006.045252 pmc "2598032".
- jmg.2006.045252 pmid "17056637".
- jmg.2006.045252 title "Nonsense mutation in pseudouridylate synthase 1 in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia".
- jmg.2006.045252 vauthors "Fernandez-Vizarra E, Berardinelli A, Valente L, etal".
- jmg.2006.045252 volume "44".
- jmg.2006.045252 year "2007".