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Article

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

European journal of human genetics : EJHG - 1 Apr 1999

Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern G J, Schwabe A, Kastner D, Rotter J I, Fischel-Ghodsian N

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease. The aim of this study was to investigate the genotype-phenotype correlation and specifically the association between amyloidosis and the four common mutations in exon 10 of the gene causing FMF (MEFV) in a total of...

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Source

Identifiers

PMID: 10234504
DOI: 10.1038/sj.ejhg.5200303

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.PMID 10234504Read ↗

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Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.Semantic proximity Read ↗

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

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

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

Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.Semantic proximity Read ↗

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.Semantic proximity Read ↗

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MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?Semantic proximity Read ↗

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