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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...
Bewaard in:
| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Group
2007
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| Onderwerpen: | |
| Online toegang: | 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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