Article
A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.
Human molecular genetics - 1 Nov 2010
Birve Anna, Neuwirth Christoph, Weber Markus, Marklund Stefan L, Nilsson Ann-Charloth, Jonsson Per Andreas, Andersen Peter M
Abstract excerpt
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)....
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