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Article

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

Arthritis and rheumatism - 1 May 2011

Jéru Isabelle, Le Borgne Gaëlle, Cochet Emmanuelle, Hayrapetyan Hasmik, Duquesnoy Philippe, Grateau Gilles, Morali Alain, Sarkisian Tamara, Amselem Serge

Abstract excerpt

OBJECTIVE: To gain insight into the molecular bases of genetically unexplained periodic fever syndromes (PFS) by screening NLRP12, a gene in which only a nonsense and a splice site mutation have so far been identified, and to assess the functional consequences of the identified missense variation. METHODS: NLRP12 was screened for mutations by direct sequencing. Functional assays were performed in HEK 293T cells...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21538323
DOI: 10.1002/art.30241

Genes

NLRP12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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