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The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.

Molecular biology reports - 1 Mar 2014

Sayın Kocakap Derya Beyza, Günel-Özcan Ayşen, Çabuk Feryal, Ensari Cüneyt

Abstract excerpt

In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to Kırıkkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the...

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Source

Identifiers

PMID: 24381109
DOI: 10.1007/s11033-013-2986-4

Genes

MEFV

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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