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