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

Author:

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

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. C1 inhibitor deficiency: diagnosis;Gompels;Clin Exp Dermatol,2005

2. Hereditary angioedema;Zuraw;N Engl J Med,2008

3. Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema;Pappalardo;J Allergy Clin Immunol,2000

4. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene;Kalmár;Hum Mutat,2005

5. National prevalence survey of hereditary angioedema in Japan;Iwamoto;Arerugi,2011

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