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Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
BMJ Case Reports (2009) -
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pubmed: 21686963 doi: 10.1136/bcr.05.2009.1889 issn: 1757-790x
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, Massimo Zeviani
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