在2个肿瘤中检测到FGFR1基因突变热点的激活。
Activating hotspot mutations in FGFR1 were identified in 2 tumors.
地中海盆地出现了数目巨大的80种新种，这让欧洲变成了可能的突变热点区。
Europe seems to have been the hot spot, with a whopping 80 new species emerging in the Mediterranean Basin.
结论WD基因第8外显子778位密码子系中国人的突变热点之一。
The codon 778 of exon 8 in WD gene was one of mutation hotspots in Chinese.
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。
Conclusion R492X nonsense mutation of PINK1 gene was rare in Chinese sporadic patients with PD.
这些突变分布于atm基因整个编码区，每个外显子都存在基因变异位点，没有发现明显的突变热点。
These gene mutation distributing in all over the whole coding section of ATM gene. Every Exon exist the gene mutated site and no obvious hot mutated site be discovered.
目的了解错配修复基因MSH6在不同形式大肠癌人群中的种系突变频率及特征，提供真正的突变热点。
Objective To explore germline mutation frequencies and features of mismatch repaired gene MSH6 in persons with different kinds of colorectal cancer.
此外，与其他已报道人群数据进行比较表明，吐尔基山辽墓主人与现代外蒙古人群遗传距离最近，其5个突变位点均为蒙古人的突变热点。
Besides, it showed that Turki had closest relationship with modern out Mongolia contrasted with the reported populations. And the 5 mutation sites of Turki were all hot mutation sites of Mongolian.
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。
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。
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.
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