The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event-Reference-Cited by-同舟云学术

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

Published:2019-06 Issue:4 Volume:1 Page:267-276
ISSN:2578-5745
Container-title:ACR Open Rheumatology
language:en
Short-container-title:ACR Open Rheuma

Author:

Awad Fawaz¹,Assrawi Eman¹,Jumeau Claire¹,Odent Sylvie²,Despert Veronique²,Cam Gérard³,Perdriger Aleth²,Louvrier Camille¹,Cobret Laetitia¹,Copin Bruno¹,Chantot‐Bastaraud Sandra¹,Duquesnoy Philippe¹,Piterboth William¹,Le Jeunne Claire⁴,Quenum‐Miraillet Genevieve¹,Siffroi Jean Pierre¹,Georgin‐Lavialle Sophie⁵,Grateau Gilles⁵,Legendre Marie¹,Giurgea Irina¹,Karabina Sonia‐Athina¹^ORCID,Amselem Serge¹

Affiliation:

1. Sorbonne UniversitéINSERM, Hôpital Trousseau Paris France

2. Centre Hospitalier Universitaire de Rennes 35203Rennes France

3. Centre Hospitalier de Saint‐Malo 35400Saint‐Malo France

4. Assistance Publique‐Hôpitaux de ParisHôpital Cochin Paris France

5. Sorbonne UniversitéINSERM, Hôpital Trousseau and Assistance Publique‐Hôpitaux de ParisHôpital Tenon Paris France

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acr2.1039

Reference30 articles.

1. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study