A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.

@article{Birve2010ANS,
  title={A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.},
  author={Anna Birve and Christoph Neuwirth and Markus Weber and Stefan L Marklund and Anna Nilsson and Per Andreas Jonsson and Peter Munch Andersen},
  journal={Human molecular genetics},
  year={2010},
  volume={19 21},
  pages={4201-6}
}
More than 145 mutations have been found in the gene CuZn-Superoxide dismutase (SOD1) in patients with amyotrophic lateral sclerosis (ALS). The vast majority are easily detected nucleotide mutations in the coding region. In a patient from a Swiss ALS family with half-normal erythrocyte SOD1 activity, exon flanking sequence analysis revealed a novel thymine to guanine mutation 7 bp upstream of exon 4 (c.240-7T>G). The results of splicing algorithm analyses were ambiguous, but five out of seven… CONTINUE READING

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