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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3672677/
https://ncbi.nlm.nih.gov/pubmed/23421920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/ar4171
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados