The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Autor: Corrado, Lucia1 (AUTHOR) lucia.corrado@med.uniupo.it, Pensato, Viviana2 (AUTHOR), Croce, Roberta1 (AUTHOR), Di Pierro, Alice1 (AUTHOR), Mellone, Simona1 (AUTHOR), Dalla Bella, Eleonora3 (AUTHOR), Salsano, Ettore4 (AUTHOR), Paraboschi, Elvezia Maria5 (AUTHOR), Giordano, Mara1 (AUTHOR), Saraceno, Massimo6 (AUTHOR), Mazzini, Letizia6 (AUTHOR), Gellera, Cinzia2 (AUTHOR), D'Alfonso, Sandra1 (AUTHOR)
Zdroj: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2020, Vol. 21 Issue 3/4, p273-279. 7p.
Databáze: Academic Search Ultimate
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