... ATM - 毛细血管扩张性共济失调症突变基因 hot spots of mutation - 突变热点 Somatic mutation - 体细胞突变 ...
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Conclusion N395K and I848T mutations are the causes of clinical phenotypes of these patients; L858, I848 and N395 may be the hot mutation spots of SCN9A gene in primary erythermalgia.
结论SCN9A基因N395K和I848T突变为该家系和散发患者出现临床症状的原因，推测L858，I848和N395可能为该基因的突变热点。
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