失去功能的突变(Loss-of-function mutations):发生的突变会造成基因完全地失去活性,原因可分成两类。一类是由於基因被删 …zhidao.baidu.com|基于81个网页 2. 失去功能突变 ...FH(fumarate hydratase)基因”失去功能突变(loss-of-function mutations)”所引起之第二型乳突样肾细胞癌;此型之遗传模式为 …gene.bhp...
BRCA2 基因突变LOSS-OF-FUNCTION Allele Registry ID:别名: ClinVar ID: BRCA2功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。 BRCA2 loss of function mutations have been shown to increase risk of breast and ovarian cancer in th...
LOSS-OF-FUNCTION,BRCA1基因突变,LOSS-OF-FUNCTION基因变异,,BRCA1功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。BRCA1 loss of function mutations have been shown to increase risk
求翻译:loss-of-function mutations是什么意思?待解决 悬赏分:1 - 离问题结束还有 loss-of-function mutations问题补充:匿名 2013-05-23 12:21:38 null 匿名 2013-05-23 12:23:18 丢失的功能突变。 匿名 2013-05-23 12:24:58 损失作用变化 匿名 2013-05-23 12:26:38 损失函数的突变 匿名...
MEF2C loss-of-function mutation contributes to congenital heart defects(MEF2C功能丧失突变导致先天性心脏病) 文档格式: .pdf 文档大小: 887.25K 文档页数: 11页 顶/踩数: 0/0 收藏人数: 0 评论次数: 0 文档热度: 文档分类: 中学教育--高考
In addition, these mutations are semidominant; heterozygotes show a very mild phenotype with incomplete penetrance. The mutations show a combined allele frequency of4% in populations of European ancestry, explaining the high incidence of ichthyosis vulgaris. Profilaggrin is the major protein of kerato...
consistent with the loss-of function effects of other GATA4 mutations underlying congenita 在这项研究, GATA4的p.S70T和p.S160T变化的功能作用由transcriptional活动分析用试样调查,并且结果在一个顺流基因在ANP促进者的transcriptional活动显示了significantly减少的transcriptional活动,一致与损失其他GATA4变化部下的...
BRCA1功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。 BRCA1 loss of function mutations have been shown to increase risk of breast and ovarian cancer in those carrying the allele in their germline. Treating BRCA mutant patients...
突变原癌基因蛋白质c-kit类Loss-of-function mutations of the c-kit receptor tyrosine kinase (KIT) result in depletion of mast cells and interstitial cells of Cajal (ICCs). In contrast, gain-of-function mutations of KIT induce neoplasms of mast cells and ICCs. In humans, the sites of ...