Article
Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.
Journal of neurology, neurosurgery, and psychiatry - 1 May 2010
van Es Michael A, Dahlberg Caroline, Birve Anna, Veldink Jan Herman, van den Berg Leonard H, Andersen P M
Abstract excerpt
OBJECTIVE: To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. METHODS: A total of 451 sporadic and 55 FALS patients were screened for SOD1 mutations. The authors performed PCR amplification of all...
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