Mutational analysis of a Chinese patient with X-linked adrenoleukodystrophy;
结果 患者ALD基因第 2 80密码子存在 1个未见报道的错义突变 ,即CGC→CTC ,该突变使原来的精氨酸被亮氨酸替换 ,并使相应部位的 1个Hin 6I酶切位点消失。
One of the etiological factors of digestive tract cancers in Chinese: the missense mutation Val384Asp in the hMLH1 gene;
中国人消化道肿瘤发病的遗传背景因素——错配修复基因hMLH1错义突变Va1384Asp
So far, 25 ATP1A2 gene mutations have been identified, and most of them are missense mutations.
目前已鉴定出25种ATP1A2基因突变,且绝大部分为错义突变,这些突变或者引起Na+/K+-ATP酶α2亚基单个等位基因的功能丧失,或者引起钠钾泵的动力学改变。
Objective To investigate whether there are as so ciations between missense mutation of renin gene and essential hypertension(EH).
目的 肾素基因错义突变与原发性高血压的相关性。