• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

SERPING1 mutation in a rare hereditary angioedema with skin blisters.

作者信息

Serpa Faradiba Sarquis, Veronez Camila Lopes, Campinhos Fernanda Lugão, Moyses Therezinha Ribeiro, Pesquero João Bosco

机构信息

School of Medicine of Santa Casa de Misericórdia of Vitória, Vitória, ES, Brazil.

Department of Biophysics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

出版信息

Ann Allergy Asthma Immunol. 2019 Mar;122(3):340-341. doi: 10.1016/j.anai.2018.11.026. Epub 2018 Nov 30.

DOI:10.1016/j.anai.2018.11.026
PMID:30508583
Abstract
摘要

相似文献

1
SERPING1 mutation in a rare hereditary angioedema with skin blisters.伴有皮肤水疱的罕见遗传性血管性水肿中的丝氨酸蛋白酶抑制剂C1抑制因子基因突变
Ann Allergy Asthma Immunol. 2019 Mar;122(3):340-341. doi: 10.1016/j.anai.2018.11.026. Epub 2018 Nov 30.
2
Hereditary angioedema caused by a novel intronic variant of SERPING1.由SERPING1基因内含子新变异导致的遗传性血管性水肿
Pediatr Allergy Immunol. 2022 Jan;33(1):e13681. doi: 10.1111/pai.13681.
3
Newly found C1 inhibitor gene mutation in hereditary angioedema patients.遗传性血管性水肿患者中新发现的C1抑制剂基因突变。
Chin Med Sci J. 2009 Dec;24(4):252. doi: 10.1016/s1001-9294(10)60012-0.
4
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype.马其顿遗传性血管性水肿伴 C1 酯酶抑制剂缺乏症:临床特征、新型 SERPING1 突变和影响临床表型的遗传因素。
Ann Med. 2018 May;50(3):269-276. doi: 10.1080/07853890.2018.1449959. Epub 2018 Mar 15.
5
SERPING1 and F12 combined variants in a hereditary angioedema family.遗传性血管性水肿家族中的丝氨酸蛋白酶抑制因子1(SERPING1)和凝血因子XII(F12)联合变异体
Ann Allergy Asthma Immunol. 2018 Oct;121(4):500-502. doi: 10.1016/j.anai.2018.05.031. Epub 2018 Jun 6.
6
A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.一名因SERPING1基因内含子深处变异导致遗传性血管性水肿的日本患者。
J Dermatol. 2023 Sep;50(9):e309-e310. doi: 10.1111/1346-8138.16817. Epub 2023 May 8.
7
Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.在两个因C1抑制剂缺乏而患有遗传性血管性水肿的克罗地亚家庭中,频繁发生危及生命的喉部发作,这些家庭的SERPING1基因存在一种新的移码突变。
Ann Med. 2016 Nov;48(7):485-491. doi: 10.1080/07853890.2016.1185144. Epub 2016 May 17.
8
A novel C1 inhibitor gene mutation in a family with hereditary angioedema: Use of genetic analysis to facilitate early diagnosis.遗传性血管性水肿家族中的一种新型C1抑制剂基因突变:利用基因分析促进早期诊断。
Allergol Int. 2020 Jan;69(1):148-149. doi: 10.1016/j.alit.2019.07.005. Epub 2019 Aug 10.
9
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.丹麦因 C1 抑制剂缺乏导致遗传性血管性水肿的家族突变谱和表型。
Allergy. 2011 Jan;66(1):76-84. doi: 10.1111/j.1398-9995.2010.02456.x. Epub 2010 Aug 30.
10
Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.SERPING1基因的缺失导致C1抑制因子功能降低:C1抑制因子功能降低可预测疾病严重程度。
Int Arch Allergy Immunol. 2019;178(1):50-59. doi: 10.1159/000492583. Epub 2018 Oct 2.

引用本文的文献

1
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.两例患有联合免疫缺陷和儿童大疱性类天疱疮的兄弟姐妹中的新型PGM3突变:病例报告及文献复习
Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0.