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？ - Suppr | 超能文献

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.PMM2-CDG 患者的因子 XII：N-糖基化在接触途径的第一个元件的分泌和功能中的作用。

Orphanet J Rare Dis. 2020 Oct 9;15(1):280. doi: 10.1186/s13023-020-01564-9.

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A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.人类凝血因子XII的kringle结构域中的一种突变会引发自身炎症，扰乱酶原静止状态，并加速激活过程。

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A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.