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- W2044280744 abstract "Although mutations in the CHAC gene have been identified in autosomal recessive chorea-acanthocytosis (AR-ChAc), the molecular basis of autosomal dominant ChAc (AD-ChAc) remains to be determined. The authors investigated abnormalities in the CHAC gene in an AD-ChAc family with mRNA and sequencing analyses of mRNA and genomic DNA. A novel single heterozygous mutation in the last nucleotide of exon 57 of the CHAC gene, which could cause skipping of the exon, was detected in affected siblings." @default.
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- W2044280744 date "2003-12-08" @default.
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- W2044280744 title "Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis" @default.
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- W2044280744 doi "https://doi.org/10.1212/01.wnl.0000096172.26601.02" @default.
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