Article
Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Dec 2013
Kuźma-Kozakiewicz Magdalena, Berdyński Mariusz, Morita Mitsuya, Takahashi Yuji, Kawata Akihiro, Kaida Ken-Ichi, Kaźmierczak Beata, Lusakowska Anna, Goto Jun, Tsuji Shoji, Zekanowski Cezary, Kwieciński Hubert
Abstract excerpt
Cu/Zn superoxide dismutase (SOD1) gene mutations are the most frequently reported genetic causes of amyotrophic lateral sclerosis (ALS). The objective of the study was to describe a clinical phenotype and haplotype background of Polish and Japanese ALS patients harbouring the K3E SOD1 mutation. The K3E mutation was identified by direct sequencing, high resolution melting analysis or high-throughput...
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