Article
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
American journal of human genetics - 1 Mar 1995
Pramatarova A, Figlewicz D A, Krizus A, Han F Y, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown R H, Rouleau G A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting motor neurons. Although most cases of ALS are sporadic, approximately 10% are inherited as an autosomal dominant trait. Mutations in the Cu/Zn superoxide dismutase gene (SOD 1) are responsible for a fraction of familial ALS (FALS). Screening our FALS kindreds by SSCP, we have identified mutations in 15 families, of which 9 have...
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