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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles
inserm-00921182v1
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D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profileNature Communications, 2016, pp.10353. ⟨10.1038/ncomms10353⟩
Journal articles
hal-01467259v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles
inserm-00921185v1
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