... autosomal gene 常染色体基因 autosomal hereditary 常染色体遗传 autosomal recessive 常染色体隐性遗传 ...
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autosomal gene amorphic 正染色体基因
single dominant autosomal gene 单显性常染色体基因
autosomal lethal gene 普通染色体致死基因
autosomal recessive gene 常染色体隐性基因
autosomal dominant gene 常染色体显性基因
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传,与X-染色体关联,所以,母亲是基因携带者的男性表现为发病。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
AT M基因突变可导致共济失调毛细血管扩张症(AT),一种常染色体隐性遗传病,该病特点是不协调的肌肉运动和神经退化。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
方法:筛选出患长qt综合征1型的家庭成员,并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
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