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Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)

โœ Scribed by R.W Orrell; S.L Marklund; J.S deBelleroche


Book ID
119468703
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
149 KB
Volume
153
Category
Article
ISSN
0022-510X

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## 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