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Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)

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10.1136/bmj.285.6345.843 [DOI] [PMC free article] [PubMed] [Google Scholar] Hernandes VV, Zeyda M, Wisgrill L, Warth B (2025) Dried blood spots analysis for targeted and non-targeted exposomics