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Article

Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.

Blood cells, molecules & diseases - 1 Jan 2000

Timmann Christian, Mersinli Osman, Kuhne Kathrin, Sievertsen Juergen, Griebel Martin A, Dieckerhoff Jost, Horstmann Rolf D

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever, serositis, and a risk for AA amyloidosis. FMF is caused by mutations in the Mediterranean fever gene (MEFV), which is expressed in blood cells of the myelomonocytic differentiation pathway. We identified a novel mutation S1791 in exon 2 of MEFV in two members of a family of Turkish origin. In both...

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PMID: 14636645
DOI: 10.1016/s1079-9796(03)00132-3

Genes

MEFV

Variants

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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.

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