Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early‐onset myopathy with lactic acidosis and sideroblastic anaemia. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus...

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Hauptverfasser: Fernandez‐Vizarra, Erika, Berardinelli, Angela, Valente, Lucia, Tiranti, Valeria, Zeviani, Massimo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598032/
https://ncbi.nlm.nih.gov/pubmed/17056637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045252
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