Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.
作者信息
Hashimura Chinami, Kiyohara Chikako, Fukushi Jun-Ichi, Hirose Tomoya, Ohsawa Isao, Tahira Tomoko, Horiuchi Takahiko
机构信息
Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.
Center for Research, Education, and Treatment of angioEdema, a specified Non-profit Corporation, Fukuoka, Japan.
出版信息
Allergy. 2021 Nov;76(11):3529-3534. doi: 10.1111/all.15034. Epub 2021 Aug 12.
Abstract
摘要
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Hereditary Angioedema.遗传性血管性水肿
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Allergy. 2018 Nov;73(11):2244-2247. doi: 10.1111/all.13550. Epub 2018 Aug 13.
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Allergy. 2018 Feb;73(2):442-450. doi: 10.1111/all.13270. Epub 2017 Sep 7.
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5
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LOVD v.2.0: the next generation in gene variant databases.LOVD v.2.0：基因变异数据库的新一代产品。
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A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations.一例因因子 XII 缺乏症而出现抗因子 H 抗体导致的非典型溶血尿毒综合征患者，发现了两种新的突变。
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