Article
DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.
Neuroscience letters - 29 Sept 2009
Broom Wendy J, Johnson Daniel V, Garber Manuel, Andersen Peter M, Lennon Niall, Landers John, Nusbaum Chad, Russ Carsten, Brown Robert H
Abstract excerpt
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases; 12-23% are associated with mutations in the Cu/Zn superoxide dismutase gene (SOD1). All ALS-linked SOD1 mutations present with a dominant pattern of inheritance apart from the aspartate to alanine mutation in exon 4 (D90A). This mutation has been observed in dominant, recessive and apparently sporadically cases. SOD1(D90A/D90A) ALS...
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