先证者
错义突变
外显子
遗传学
蛋白质S缺乏症
家族史
蛋白质C缺乏
医学
突变
遗传咨询
生物
血栓性
血栓形成
静脉血栓形成
内科学
基因
作者
Ke Huang,Lingsheng Kong,Zhenxu Wu,Xiaobin Wen,Jun Zhao,H C Zhang,Yingyang Xu,Xinyang Long,Y Kang
出处
期刊:PubMed
[National Institutes of Health]
日期:2016-09-24
卷期号:44 (9): 782-785
标识
DOI:10.3760/cma.j.issn.0253-3758.2016.09.010
摘要
HPSD is an autosomal dominant genetic disease, patients often suffer from recurring vein thrombosis and pulmonary embolism. A missense mutation(c.1063C>T, p. R355C)of PROS1 was discovered in this Chinese family with HPSD, thus, this mutation might be the genetic basis responsible for these family members with HPSD .
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