A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Gelijkaardige items

• A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
  door: Çiğdem Seher Kasapkara, et al.
  Gepubliceerd in: (2017-11-01)
• Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
  door: Fernandez‐Vizarra, Erika, et al.
  Gepubliceerd in: (2007)
• Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
  door: Fernandez-Vizarra, Erika, et al.
  Gepubliceerd in: (2009)
• Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
  door: Woods, Jeremy, et al.
  Gepubliceerd in: (2019)
• A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
  door: Shahni, Rojeen, et al.
  Gepubliceerd in: (2013)