The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event
NLRP3 p.A441V 突变在 NLRP3-AID 发病机制中的作用：功能后果、表型-基因型相关性以及复发性突变事件的证据
期刊:ACR Open Rheumatology
影响因子:2.8
doi:10.1002/acr2.1039
Awad, Fawaz; Assrawi, Eman; Jumeau, Claire; Odent, Sylvie; Despert, Veronique; Cam, Gérard; Perdriger, Aleth; Louvrier, Camille; Cobret, Laetitia; Copin, Bruno; Chantot-Bastaraud, Sandra; Duquesnoy, Philippe; Piterboth, William; Le Jeunne, Claire; Quenum-Miraillet, Genevieve; Siffroi, Jean Pierre; Georgin-Lavialle, Sophie; Grateau, Gilles; Legendre, Marie; Giurgea, Irina; Karabina, Sonia-Athina; Amselem, Serge
