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LARGE SCALE GENOTYPING OF DISEASES AND A DIAGNOSTIC TEST FOR SPINOCEREBELLAR ATAXIA TYPE 6
LARGE SCALE GENOTYPING OF DISEASES AND A DIAGNOSTIC TEST FOR SPINOCEREBELLAR ATAXIA TYPE 6
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机译:大型脊髓型6型椎间盘融合症的疾病基因分型和诊断测试
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摘要
The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleotide repeat in the alpha1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disease-causing due to trinucleotide repeat sequence instability by large scale genotyping.
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