The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

OBJECTIVE: To determine the molecular and cellular bases of autoinflammatory syndromes in a multigenerational French family with Muckle‐Wells syndrome and in a patient originating from Portugal with familial cold autoinflammatory syndrome. METHODS: Sequencing of NLRP3 exon 3 was performed in all acc...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857991/
https://www.ncbi.nlm.nih.gov/pubmed/31777803
http://dx.doi.org/10.1002/acr2.1039

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