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Article

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

Human mutation - 1 Apr 2000

Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serositis. To date more then 18 mutations responsible for the disease were identified in the MEFV gene, one such a mutation is E148Q in exon 2 of the gene. While screening FMF patients for mutations in the MEFV gene, we have identified 2 individuals parents of 2 unrelated FMF patients, who were homozygous...

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Identifiers

PMID: 10737995
DOI: 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO;2-A

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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The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?PMID 10737995Read ↗

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