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A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy. First described in the French-Canadian population of Quebec in 1978, ARSACS has since been identified in multiple patients worl...

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I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Sean C. Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R. Haines
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2018-11-01
Rangatū:Frontiers in Neurology
Ngā marau:
Urunga tuihono:https://www.frontiersin.org/article/10.3389/fneur.2018.00956/full
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