1. Impact of a frequent nearsplice
- Author
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François, Muratet, Elisa, Teyssou, Aude, Chiot, Séverine, Boillée, Christian S, Lobsiger, Delphine, Bohl, Beata, Gyorgy, Justine, Guegan, Yannick, Marie, Maria Del Mar, Amador, Francois, Salachas, Vincent, Meininger, Emilien, Bernard, Jean-Christophe, Antoine, Jean-Philippe, Camdessanché, William, Camu, Cécile, Cazeneuve, Anne-Laure, Fauret-Amsellem, Eric, Leguern, Kevin, Mouzat, Claire, Guissart, Serge, Lumbroso, Philippe, Corcia, Patrick, Vourc'h, Aude-Marie, Grapperon, Shahram, Attarian, Annie, Verschueren, Danielle, Seilhean, and Stéphanie, Millecamps
- Subjects
Adult ,Aged, 80 and over ,Male ,Amyotrophic Lateral Sclerosis ,DNA Mutational Analysis ,Genetic Therapy ,Middle Aged ,Pedigree ,Phenotype ,Superoxide Dismutase-1 ,Mutation ,Humans ,Female ,Genetic Testing ,Aged - Abstract
Mutations in superoxide dismutase 1 gene (We analysed SOD1 mutation distribution after SOD1 sequencing in a large cohort of 470 French familial ALS (fALS) index cases.We identified a total of 27 SOD1 variants in 38 families including two SOD1 variants located in nearsplice or intronic regions of the gene. The pathogenicity of the c.358-10TG nearspliceOur results highlighted nearsplice/intronic mutations in
- Published
- 2020