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Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema

✍ Scribed by Iwamoto, Kazumasa; Tanaka, Akio; Hiragun, Makiko; Kawai, Mikio; Mihara, Shoji; Takenaka, Motoi; Shibuya, Michiko; Inomata, Naoko; Hatano, Yutaka; Shimizu, Fumiaki; Kousaka, Takao; Hide, Michihiro

Book ID: 119293863
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 304 KB
Volume: 68
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2012.06.012

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Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema caused by the deficiency of activated C1 esterase inhibitor protein (C1-INH, type I (C1NH): reduced serum antigen level, type II: reduced activity and normal serum