Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1)

被引：2
|
作者：
Stieber, Christiane [1 ,2 ,3 ,4 ]
Cichon, Sven [5 ]
Magerl, Markus [6 ]
Noethen, Markus M. [1 ,2 ,3 ,4 ]
机构：
[1] Univ Hosp Bonn, Ctr Rare Dis Bonn, Bonn, Germany
[2] Univ Bonn, Inst Human Genet, Sch Med, Bonn, Germany
[3] Univ Hosp Bonn, Bonn, Germany
[4] Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany
[5] Univ Hosp Basel, Div Med Genet, Dept Biomed, Basel, Switzerland
[6] Charite, Dept Dermatol & Allergy, Comprehens Allergy Ctr Charite, Berlin, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2017年 / 25卷 / 10期
关键词：
FACTOR-XII GENE; F12; GENE; MISSENSE MUTATION; NORMAL C1-INH; FAMILY; DIAGNOSIS; FEATURES; WHEALS; EDEMA;
D O I：
10.1038/ejhg.2017.104
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
[No abstract available]
引用
收藏
页码：E1 / E4
页数：4
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