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Article

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

The Journal of rheumatology - 1 Jan 2003

Padeh Shai, Shinar Yael, Pras Elon, Zemer Debora, Langevitz Pnina, Pras Mordechai, Livneh Avi

Abstract excerpt

OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disease with diverse clinical presentation. The FMF gene (MEFV) has recently been cloned and 30 point mutations causing the disease have been identified. We appraised the value of mutation analysis as a diagnostic test for FMF in symptomatic pediatric patients, and explored the possible correlations between MEFV genotypes and the diverse...

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Identifiers

PMID: 12508410

Genes

MEFV

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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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