Hereditary angioedema caused by a novel intronic variant of SERPING1

被引:1
|
作者
Lopez-Martinez, Rocio [1 ]
Martinez-Borra, Jesus [1 ,2 ]
Fernandez-Gonzalez, Porfirio [3 ]
Coto, Eliecer [2 ,4 ,5 ]
Toyos-Gonzalez, Paula [3 ]
机构
[1] Hosp Univ Cent Asturias, Dept Immunol, Oviedo, Spain
[2] Inst Invest Sanitaria Principado Asturias, Oviedo, Spain
[3] Hosp Univ Cent Asturias, Dept Pediat, Oviedo, Spain
[4] Hosp Univ Cent Asturias, Dept Genet, Oviedo, Spain
[5] Univ Oviedo, Oviedo, Spain
关键词
C1 inhibitor deficiency; hereditary angioedema; intronic mutation; SERPING1; gene;
D O I
10.1111/pai.13681
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页数:4
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