紫癜性肾炎合并遗传性抗凝血酶Ⅲ缺乏症致颅内静脉窦血栓形成一例并文献复习
Chinese Journal of Nephrology（2019）
Abstract
报道1例紫癜性肾炎合并遗传性抗凝血酶Ⅲ缺乏症致颅内静脉窦血栓形成病例,遗传性抗凝血酶Ⅲ缺乏症经基因检测确诊.全外显子测序发现患儿SERPINC1基因杂合无义突变(c.1171C>T;p.Arg391X;EX6)及HABP2基因杂合错义突变(c.1063T>C;p.Cys355Arg;EX9).患儿及其母亲和舅舅均检测出SERPINC1基因杂合无义突变,患儿及其父亲则检测出HABP2基因杂合错义突变.
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