Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor

被引：27

作者：

Bork, K. ^{[1
]}

Wulff, K. ^{[2
]}

Hardt, J. ^{[3
]}

Witzke, G. ^{[1
]}

Lohse, P. ^{[4
]}

机构：

[1] Johannes Gutenberg Univ Mainz, Dept Dermatol, D-55131 Mainz, Germany

[2] Ernst Moritz Arndt Univ Greifswald, Univ Med, Greifswald, Germany

[3] Johannes Gutenberg Univ Mainz, Dept Med Psychol & Med Sociol, D-55131 Mainz, Germany

[4] Inst Lab Med & Human Genet, Singen, Germany

来源：

HAEMOPHILIA | 2014年 / 20卷 / 05期

关键词：

coagulation factor XII; deletion; F12; gene; hereditary angioedema; mRNA analysis; normal C1 inhibitor; NORMAL C1-INHIBITOR; HAGEMAN-FACTOR; MISSENSE MUTATIONS;

D O I：

10.1111/hae.12519

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

[No abstract available]

引用

页码：e372 / e375

页数：4

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