先证者
因子十二
外显子
凝结
遗传学
部分凝血活酶时间
系谱图
分子生物学
突变
突变试验
遗传分析
生物
桑格测序
基因
医学
内科学
作者
Shanshan Li,Chenfang Shen,Kuangyi Shu,Jie Liu,Xiaoou Wang,Fanfan Li,Xiao Yang,Zhaohua Zhang,Bi Chen,Minghua Jiang
出处
期刊:PubMed
[National Institutes of Health]
日期:2018-12-10
卷期号:35 (6): 800-803
标识
DOI:10.3760/cma.j.issn.1003-9406.2018.06.005
摘要
Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.
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