Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

European journal of human genetics : EJHG - 1 Feb 2002

Gershoni-Baruch Ruth, Brik Riva, Shinawi Marwan, Livneh Avi

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurring attacks of fever and serositis. Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. The wide clinical variability of the disease has been related to MEFV allelic heterogeneity. M694V homozygotes have a severe form of the disease. Mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Africa, Northern
Share to Amyloidosis
Share to Arabs

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Familial Mediterranean Fever

Share to Genetic Heterogeneity

Source

Identifiers

PMID: 11938447
DOI: 10.1038/sj.ejhg.5200776

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.PMID 11938447Read ↗

The spectrum of Familial Mediterranean Fever (FMF) mutations.Semantic proximity Read ↗

Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.Semantic proximity Read ↗

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.Semantic proximity Read ↗

Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation.Semantic proximity Read ↗

Differential mutational profiles of familial Mediterranean fever in North Africa.Semantic proximity Read ↗

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.Semantic proximity Read ↗

Clinical and Genetic Spectrum of MEFV Variants in Moroccan Patients with Familial Mediterranean FeverSemantic proximity Read ↗

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean FeverSemantic proximity Read ↗

The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.Semantic proximity Read ↗

The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever.Semantic proximity Read ↗

<i>MEFV</i> Gene Mutations in Egyptian Patients with Familial Mediterranean FeverSemantic proximity Read ↗

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.