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The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al.

作者信息

Vitale Antonio, Rigante Donato, Lucherini Orso Maria, Caso Francesco, Cantarini Luca

机构信息

Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico 'Le Scotte', University of Siena, Siena, Italy.

出版信息

Clin Exp Rheumatol. 2014 Nov-Dec;32(6):994. Epub 2014 Oct 20.

PMID:25327451
Abstract
摘要

相似文献

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The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al.F402L等位基因在NLRP12自身炎症性疾病中的作用。回复:De Pieri等人关于未确诊周期性发热患者及健康对照中NLRP12基因F402L变异的研究
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NLRP3, NLRP6, and NLRP12 are inflammasomes with distinct expression patterns.NLRP3、NLRP6 和 NLRP12 是具有不同表达模式的炎症小体。
Front Immunol. 2024 Jul 15;15:1418290. doi: 10.3389/fimmu.2024.1418290. eCollection 2024.
2
Systemic Autoinflammatory Disease and Genetic Testing.全身性自身炎症性疾病与基因检测
Rheumatol Immunol Res. 2021 Dec 31;2(4):209-211. doi: 10.2478/rir-2021-0028. eCollection 2021 Dec.
3
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.多基因测序揭示 NLRP12 相关自身炎症性疾病的异质性。
Rheumatol Int. 2018 May;38(5):887-893. doi: 10.1007/s00296-018-4002-8. Epub 2018 Mar 2.
4
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.具有孟德尔遗传的单基因自身炎症性疾病:基因、突变及基因型/表型相关性
Front Immunol. 2017 Apr 3;8:344. doi: 10.3389/fimmu.2017.00344. eCollection 2017.
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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.通过外显子组测序在极罕见疾病家族性冷自身炎症综合征中鉴定出一种新型NLRP12无义突变(Trp408X)
PLoS One. 2016 Jun 17;11(6):e0156981. doi: 10.1371/journal.pone.0156981. eCollection 2016.
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Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.单基因自身炎症性疾病的全身和器官受累:通过内科医生视角的全球综述
Intern Emerg Med. 2016 Sep;11(6):781-91. doi: 10.1007/s11739-016-1466-y. Epub 2016 May 25.