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Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
- Correspondence to: Dr Massimo Zeviani Division of Molecular Neurogenetics, National Institute of Neurology “C. Besta”, via Temolo 4, Milano 20126, Italy; zeviani{at}istituto-besta.it
Citation
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Publication history
- Received July 6, 2006
- Accepted September 28, 2006
- Revised September 12, 2006
- First published October 20, 2006.
Online issue publication
April 27, 2016
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Copyright 2007 Journal of Medical Genetics