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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.
- Received June 4, 2003.
- Accepted August 5, 2003.
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- Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis
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