Article
Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.
Archives of neurology - 1 Oct 2010
Sato Kazunori, Yabe Ichiro, Fukuda Yoko, Soma Hiroyuki, Nakahara Yasuo, Tsuji Shoji, Sasaki Hidenao
Abstract excerpt
OBJECTIVES: To map the disease locus and to identify a gene mutation in a Japanese family with autosomal dominant cerebellar ataxia. DESIGN: A genome-wide linkage analysis was performed using the Affymetrix genome-wide human single-nucleotide polymorphism array containing 909 622 single-nucleotide polymorphisms. Direct nucleotide sequencing of a candidate gene was performed. SETTING: Hokkaido University Graduate...
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