SOD1
肌萎缩侧索硬化
遗传学
超氧化物歧化酶
分子遗传学
基因
人口
生物
突变
医学
神经科学
病理
疾病
酶
生物化学
环境卫生
标识
DOI:10.1080/14660820052415835
摘要
As a result of the advances made in the field of molecular and population genetics, it is anticipated that several genes underlying ALS or predisposing to ALS might be identified in the near future. This will enable physicians to establish a diagnosis of ALS based on molecular findings in addition to clinical and electrophysiological findings. At present, mutations in the gene encoding for the free radical scavenging enzyme, superoxide dismutase (SOD1), is the only basis for a molecular diagnosis. Other mutations are under investigation and confirmed results are eagerly awaited.
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