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A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS

โœ Scribed by Paul N. Valdmanis; Veronique V. Belzil; James Lee; Patrick A. Dion; Judith St-Onge; Pascale Hince; Benoit Funalot; Philippe Couratier; Pierre Clavelou; William Camu; Guy A. Rouleau


Book ID
111111523
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
230 KB
Volume
73
Category
Article
ISSN
0003-4800

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Novel SOD1 N86K mutation is associated w
โœ Marcus Beck; Michael Sendtner; Klaus V. Toyka ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 259 KB

## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a