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A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance

โœ Scribed by Gisela Nogales-Gadea; Elena Garcia-Arumi; Antonio L. Andreu; Carlos Cervera; Josep Gamez


Book ID
119301319
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
248 KB
Volume
219
Category
Article
ISSN
0022-510X

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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