Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
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| Description | scientific article |
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author: Valeria Tiranti Massimo Zeviani Angela Berardinelli Erika Fernandez-Vizarra |
| Publication date | March 2007 |
| Language | English |
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