Identification of a novel mutation in the SERPING1 gene in a 17-year-old Chinese girl with type I hereditary angioedema.

作者信息

Zhang Wei, Liu Hongwei

机构信息

Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, China.

出版信息

JAAD Case Rep. 2024 Nov 10;56:38-39. doi: 10.1016/j.jdcr.2024.10.023. eCollection 2025 Feb.

DOI:10.1016/j.jdcr.2024.10.023

PMID:39839458

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11750429/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4fc/11750429/28a263d36bb1/gr1.jpg

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本文引用的文献

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.中国人群中与遗传性血管性水肿相关的 SERPING1 突变更新。

Hereditas. 2022 Jul 11;159(1):28. doi: 10.1186/s41065-022-00242-z.

Hereditary angioedema: a Chinese perspective.遗传性血管性水肿：中国视角。

Eur J Dermatol. 2019 Feb 1;29(1):14-20. doi: 10.1684/ejd.2018.3487.

Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies.缓激肽介导的血管性水肿的流行病学：对流行病学研究的系统调查。

Orphanet J Rare Dis. 2018 May 4;13(1):73. doi: 10.1186/s13023-018-0815-5.

Upper airway edema in 43 patients with hereditary angioedema.43 例遗传性血管性水肿患者的上呼吸道水肿。

Ann Allergy Asthma Immunol. 2014 Jun;112(6):539-544.e1. doi: 10.1016/j.anai.2014.03.003. Epub 2014 Apr 1.

Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.中国遗传性血管性水肿家系的突变谱及基因表型相关性研究。

Allergy. 2012 Nov;67(11):1430-6. doi: 10.1111/all.12024. Epub 2012 Sep 21.

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