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Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family.

Delia GagliardiMinoo AhmadinejadRoberto Del BoMegi MeneriGiacomo Pietro ComiStefania CortiDario Ronchi
Published in: Neurology. Genetics (2021)
variants and suggests that the development of an earlier-onset and/or faster disease progression can occur when 2 mutated alleles are present.
Keyphrases
  • amyotrophic lateral sclerosis
  • copy number
  • early onset
  • drug induced
  • dna methylation
  • wild type
  • genome wide