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- W2012172239 abstract "A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the <i>SACS</i> gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS." @default.
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- W2012172239 date "2004-01-12" @default.
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- W2012172239 title "A novel mutation in SACS gene in a family from southern Italy" @default.
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- W2012172239 doi "https://doi.org/10.1212/wnl.62.1.100" @default.
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