Objective to investigate the characteristics of the cytogenetic anomalies of ataxiatelangiectasia.
目的探讨共济失调毛细血管扩张症的细胞遗传学异常特点。
2
Mutations in the corresponding ATM gene result in ataxiatelangiectasia (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。