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Article

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

Annals of the rheumatic diseases - 1 Jul 2010

Ryan J G, Masters S L, Booty M G, Habal N, Alexander J D, Barham B K, Remmers E F, Barron K S, Kastner D L, Aksentijevich I

Abstract excerpt

OBJECTIVES: Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear. Exon 3 encoding pyrin's B-box domain is necessary for interactions with proline serine threonine phosphatase interacting protein 1 (PSTPIP1). The aim was to characterise the phenotype of patients with these substitutions and to determine their...

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Source

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Identifiers

PMID: 19934105
DOI: 10.1136/ard.2009.113415
PMCID: PMC3570240

Genes

PSTPIP1
MEFV
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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