Article
Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 1998
Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, Camu W, Rouleau G A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SOD1) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds...
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