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Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene

โœ Scribed by Stefania Battistini; Claudia Ricci; Enrico Maria Lotti; Michele Benigni; Stella Gagliardi; Riccardo Zucco; Massimo Bondavalli; Norina Marcello; Mauro Ceroni; Cristina Cereda

Book ID
119303703
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
530 KB
Volume
293
Category
Article
ISSN
0022-510X

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Novel SOD1 N86K mutation is associated w
Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS
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