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Article

Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series.

Clinical and experimental rheumatology - 1 Jan 2000

Vitale Antonio, Lucherini Orso Maria, Galeazzi Mauro, Frediani Bruno, Cantarini Luca

Abstract excerpt

BACKGROUND: Cryopyrin-associated periodic syndromes (CAPS) comprise a spectrum of apparently distinct, rare, autosomal dominant autoinflammatory disorders of increasing severity caused by NLRP3 gene mutations. The Q703K allele is a variant of unknown pathogenetic significance, and has been considered to be both a clinically unremarkable polymorphism and a low- penetrance mutation. OBJECTIVES: To analyse the...

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Identifiers

PMID: 22935299

Genes

NLRP3
CAPS

Provenance

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