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Neurology. 2003 Dec 9;61(11):1614-6.

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.

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  • 1Department of Neurology, Kanazawa Medical University, Ishikawa, Japan.

Erratum in

  • Neurology. 2011 Aug 16;77(7):701.

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.

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PMID:
14663054
[PubMed - indexed for MEDLINE]
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