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Open Access 01-11-2013 | Meeting abstract

PW02-030 - Clinical phenotype in individuals with Q703K

Authors: DM Rowczenio, H Trojer, G Wang, PN Hawkins, HJ Lachmann, A Baginska, T Russell, R Al-Nackkash, A Bybee, NM Stewart, T Lane

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS) characterized by episodes of fever, urticarial rash, arthralgia, myalgia, eye inflammation, and, in its more severe forms, bony abnormalities and CNS inflammation. Of the 145 sequence variants in NLRP3 reported to date, 30 are either nonpathogenic or of undetermined significance, the commonest of which, Q703K, has been reported in 5 to10% of general population. …

Title: PW02-030 - Clinical phenotype in individuals with Q703K
Authors: DM Rowczenio
H Trojer
G Wang
PN Hawkins
HJ Lachmann
A Baginska
T Russell
R Al-Nackkash
A Bybee
NM Stewart
T Lane
Publication date: 01-11-2013
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-11-S1-A171

At a glance: The STEP trials

Springer Medicine

PW02-030 - Clinical phenotype in individuals with Q703K

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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