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Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.

Clinical and experimental rheumatology - 1 Oct 2023

Kocabey Mehmet, Cankaya Tufan, Bayram Meral Torum, Ulgenalp Ayfer, Caglayan Ahmet Okay, Giray Bozkaya Ozlem

Abstract excerpt

OBJECTIVES: Familial Mediterranean Fever (FMF) is an inflammatory disease characterised by periodic fever and concurrent episodes of serous membrane inflammation. FMF is considered to be inherited in autosomal recessive manner and biallelic mutations in the MEFV gene are associated with the disease. However, approximately 20-25% of patients only have a single mutation in MEFV gene, which creates confusion in...

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PMID: 37140617
DOI: 10.55563/clinexprheumatol/2z3l1u

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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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