在一个有男性和女性患者的家族中，C1抑制因子基因正常的遗传性血管性水肿与F12基因中的p.Thr328Lys突变相关。 - Suppr

Suppr

超能文献

Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene.

作者信息

Martin Ludovic, Raison-Peyron Nadia, Nöthen Markus M, Cichon Sven, Drouet Christian

出版信息

J Allergy Clin Immunol. 2007 Oct;120(4):975-7. doi: 10.1016/j.jaci.2007.07.002. Epub 2007 Sep 7.

DOI:10.1016/j.jaci.2007.07.002

PMID:17825897

Abstract

摘要

相似文献

Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene.在一个有男性和女性患者的家族中，C1抑制因子基因正常的遗传性血管性水肿与F12基因中的p.Thr328Lys突变相关。

J Allergy Clin Immunol. 2007 Oct;120(4):975-7. doi: 10.1016/j.jaci.2007.07.002. Epub 2007 Sep 7.

Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations.具有正常C1抑制剂活性的遗传性血管性水肿，包括伴有凝血因子XII基因突变的遗传性血管性水肿。

Immunol Allergy Clin North Am. 2006 Nov;26(4):709-24. doi: 10.1016/j.iac.2006.09.003.

Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.C1抑制剂正常的遗传性血管性水肿中凝血因子XII（哈格曼因子）基因的错义突变

Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. doi: 10.1016/j.bbrc.2006.03.092.

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.在具有遗传性血管性水肿和正常 C1 抑制剂的患者中，凝血因子 12 基因的一种新突变。

Clin Immunol. 2011 Oct;141(1):31-5. doi: 10.1016/j.clim.2011.07.002. Epub 2011 Jul 30.

Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations.女性抗组胺药抵抗性血管性水肿伴阴性家族史：雌激素与 F12 基因突变。

Am J Med. 2013 Dec;126(12):1142.e9-14. doi: 10.1016/j.amjmed.2013.05.017.

Novel duplication in the F12 gene in a patient with recurrent angioedema.患者复发性血管性水肿中 F12 基因的新型重复。

Clin Immunol. 2013 Oct;149(1):142-5. doi: 10.1016/j.clim.2013.08.001. Epub 2013 Aug 9.

Idiopathic angioedema with F12 mutation: is it a new entity?伴有F12突变的特发性血管性水肿：它是一种新的疾病实体吗？

Ann Allergy Asthma Immunol. 2015 Feb;114(2):154-6. doi: 10.1016/j.anai.2014.11.018. Epub 2014 Dec 15.

Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families.13 个西班牙西北部家族 III 型遗传性血管性水肿的临床、生化和遗传学特征。

Ann Allergy Asthma Immunol. 2012 Sep;109(3):195-200.e2. doi: 10.1016/j.anai.2012.05.022. Epub 2012 Jun 27.

Hereditary angioedema with normal C1 inhibitor.遗传性血管性水肿伴正常 C1 抑制剂。

Immunol Allergy Clin North Am. 2013 Nov;33(4):457-70. doi: 10.1016/j.iac.2013.07.002. Epub 2013 Sep 5.

First case of homozygous C1 inhibitor deficiency.首例纯合子C1抑制剂缺乏症病例。

J Allergy Clin Immunol. 2006 Dec;118(6):1330-5. doi: 10.1016/j.jaci.2006.07.035. Epub 2006 Sep 18.

引用本文的文献

Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.利用遗传学治疗遗传性血管性水肿：精准医学的路线图。

Clin Rev Allergy Immunol. 2021 Jun;60(3):416-428. doi: 10.1007/s12016-021-08836-7. Epub 2021 Jan 28.

The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.由于FXII p.Thr328Lys变异导致遗传性血管性水肿患者中，FXII基因c.-4T>C多态性作为疾病修饰因素。

Front Genet. 2020 Sep 10;11:1033. doi: 10.3389/fgene.2020.01033. eCollection 2020.

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.遗传性血管性水肿伴正常 C1 抑制剂的基因特征类型的临床特征：定性证据的系统评价。

Orphanet J Rare Dis. 2020 Oct 15;15(1):289. doi: 10.1186/s13023-020-01570-x.

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).遗传性血管性水肿伴正常 C1 抑制剂（HAEnC1）的临床实用基因卡片

Eur J Hum Genet. 2017 Oct;25(10):e1-4. doi: 10.1038/ejhg.2017.104. Epub 2017 Jul 5.

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema.伴有正常C1抑制剂和因子XII突变的遗传性血管性水肿：来自法国血管性水肿国家参考中心的57例患者系列研究

Clin Exp Immunol. 2016 Sep;185(3):332-7. doi: 10.1111/cei.12820.

Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.凝血因子 XII 的糖基化缺陷是 III 型遗传性血管性水肿的基础。

J Clin Invest. 2015 Aug 3;125(8):3132-46. doi: 10.1172/JCI77139. Epub 2015 Jul 20.

Management of hereditary angioedema in pregnant women: a review.妊娠期遗传性血管性水肿的管理：综述。

Int J Womens Health. 2014 Sep 9;6:839-48. doi: 10.2147/IJWH.S46460. eCollection 2014.

Enzymatic assays for the diagnosis of bradykinin-dependent angioedema.用于血管性水肿的缓激肽依赖性诊断的酶学检测。

PLoS One. 2013 Aug 5;8(8):e70140. doi: 10.1371/journal.pone.0070140. Print 2013.

Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions.因子 XII 突变、雌激素依赖性遗传性血管性水肿及相关疾病。

Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):16. doi: 10.1186/1710-1492-6-16.

Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor.遗传性血管性水肿伴正常 C1 抑制剂的诊断与治疗。

Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):15. doi: 10.1186/1710-1492-6-15.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验