Article
A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.
Clinical and experimental rheumatology - 1 Jan 2000
Lidar Merav, Brantz Yael, Shinar Yael, Reznik-Wolf Haike, Livneh Avi, Ben Zvi Ilan, Cohen Rinat, Berkun Yaakov, Hashkes Philip J, Peleg Hagit, Kessel Aharon, Slobodin Gleb, Rozenbaum Michael, Goldzweig Ofra, Pras Elon
Abstract excerpt
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients...
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