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Article

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population.

Annals of the rheumatic diseases - 1 Dec 2012

Federici Silvia, Calcagno Giuseppina, Finetti Martina, Gallizzi Romina, Meini Antonella, Vitale Agata, Caroli Francesco, Cattalini Marco, Caorsi Roberta, Zulian Francesco, Tommasini Alberto, Insalaco Antonella, Sormani Maria Pia, Baldi Maurizia, Ceccherini Isabella, Martini Alberto, Gattorno Marco

Abstract excerpt

OBJECTIVE: To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever. METHODS: 113 children carrying MEFV mutations (44 with mutations in two alleles, 69 heterozygous) and 205 children negative for mutations...

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Source

Identifiers

PMID: 22580583
DOI: 10.1136/annrheumdis-2011-200977

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22580583-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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