The present invention relates to neurological disease, in particular to mutations in the FIG4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states such as ALS.
本发明涉及神经系统疾病,特别是 FIG4
基因的突变。本发明还提供了检测变异 FIG4 等位
基因的检测方法,以及检测与 ALS 等疾病状态相关的 FIG4 多态性和突变的检测方法。