Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

INTRODUCTION: Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported in association with various CAPS phenotypes and as a variant of uncertain consequence. The aim...

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Detalles Bibliográficos
Autores principales: Rowczenio, Dorota M, Trojer, Hadija, Russell, Tonia, Baginska, Anna, Lane, Thirusha, Stewart, Nicola M, Gillmore, Julian D, Hawkins, Philip N, Woo, Patricia, Mikoluc, Bozena, Lachmann, Helen J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672677/
https://www.ncbi.nlm.nih.gov/pubmed/23421920
http://dx.doi.org/10.1186/ar4171

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