The distribution of MEFV mutations in Turkish FMF patienmulticenter study representing results of anatolia

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dc.contributor.authorYaşar Bilge N.Ş.
dc.contributor.authorSari İ.
dc.contributor.authorSolmaz D.
dc.contributor.authorŞenel S.
dc.contributor.authorEmmungil H.
dc.contributor.authorKiliç L.
dc.contributor.authorYilmaz Öner S.
dc.contributor.authorYildiz F.
dc.contributor.authorYilmaz S.
dc.contributor.authorErsözlu Bozkirli D.
dc.contributor.authorAydin Tufan M.
dc.contributor.authorYilmaz S.
dc.contributor.authorYazisiz V.
dc.contributor.authorPehlivan Y.
dc.contributor.authorBes C.
dc.contributor.authorYildirim Çetin G.
dc.contributor.authorErten Ş.
dc.contributor.authorGönüllü E.
dc.contributor.authorŞahin F.
dc.contributor.authorAkar S.
dc.contributor.authorAksu K.
dc.contributor.authorKalyoncu U.
dc.contributor.authorDireskeneli H.
dc.contributor.authorErken E.
dc.contributor.authorKisacik B.
dc.contributor.authorSayarlioglu M.
dc.contributor.authorÇinar M.
dc.contributor.authorKaşifoğlu T.
dc.date.accessioned2019-10-27T08:01:32Z
dc.date.available2019-10-27T08:01:32Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation. One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles. © TÜBİTAK.en_US
dc.identifier.doi10.3906/sag-1809-100en_US
dc.identifier.endpage477en_US
dc.identifier.issn1300-0144
dc.identifier.issue2en_US
dc.identifier.pmid30887796en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage472en_US
dc.identifier.urihttps://doi.org/10.3906/sag-1809-100
dc.identifier.urihttps://hdl.handle.net/11454/25016
dc.identifier.volume49en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkiye Kliniklerien_US
dc.relation.ispartofTurkish Journal of Medical Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean feveren_US
dc.subjectM694Ven_US
dc.subjectMediterranean fever gene mutationsen_US
dc.subjectTurkeyen_US
dc.titleThe distribution of MEFV mutations in Turkish FMF patienmulticenter study representing results of anatoliaen_US
dc.typeArticleen_US

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