Conclusions Novel compound heterozygous nonsense mutation of KCNQ1 can cause JLNS.

结论JLNS可由KCNQ1基因上复合的杂合突变所引起。

Conclusion R492X nonsense mutation of PINK1 gene was rare in Chinese sporadic patients with PD.

结论PINK1基因R 492x无义突变不大可能是中国散发性帕金森病患者的突变热点。

In most genetic conditions, between 5-15 per cent of cases are caused by a defect called a "nonsense mutation".

在多数基因情况下，约5 - 15%的病例都是由一种叫做“无意义突变”的缺陷引起。

The beauty of the drug is that it should be useful with any disease caused by a nonsense mutation, no matter what its outward effects.

该药的优点在于，它对任何由无意义突变导致的疾病都有效，而不论这些疾病的外在表现是什么。