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Article

Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

Mutation research - 8 Aug 2001

Timmann C, Muntau B, Kuhne K, Gelhaus A, Horstmann R D

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). We describe two novel missense mutations in MEFV, R653H and E230K. Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 11470495
DOI: 10.1016/s0027-5107(01)00221-4

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11470495-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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