Article
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
Neurology - 9 Dec 2003
Saiki S, Sakai K, Kitagawa Y, Saiki M, Kataoka S, Hirose G
Abstract excerpt
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...
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