(2)FMR-Ⅰ基因的全突变(full mutation):FMR-Ⅰ基因由前突变状态(CGG)53~230次扩增至>230次时,100%男性携带者表现为典型的脆性X综合征,53%的女性携带者表现出轻重程...
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全基因组学关联研究所产生的数据结果是巨大的,但是很少能直接鉴别出突变和病症之间的功能关系。
The output of genome-wide association studies is vast, yet it is rarely straightforward to identify the functional connection between a variant and a disorder.
目前报道的生物素酶基因突变超过80余种,全羧化酶合成酶基因突变20多种。
Thus far more than 80 mutations in the gene of biotinidase and more than 20 mutations in the holocarboxylase synthetase gene have been reported.
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