๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel SOD1 gene mutation in familial ALS with low penetrance in females

โœ Scribed by T. Murakami; H. Warita; T. Hayashi; K. Sato; Y. Manabe; S. Mizuno; K. Yamane; K. Abe

Book ID
119465417
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
63 KB
Volume
189
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

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