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Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis
Journal of Medical Genetics, 11/10/09
Corrado L et al. – The results show that FUS missense mutations are present in 0.7% of Italian SALS cases and confirm the previous mutational frequency reported in FALS (4.4%). An unusual proximal and axial clinical presentation seems associated to the presence of the p.R521C mutation.
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