Exon 2: Is it the good police in familial mediterranean fever?

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dc.authorid0000-0002-0783-1072
dc.authorid0000-0002-9035-689X
dc.authorid0000-0001-9311-8179
dc.authorid0000-0001-5184-4404
dc.authorid0000-0003-1064-9690
dc.authorid0000-0003-1843-9698
dc.authorid0000-0003-3628-8870
dc.authorid0000-0002-4691-3417
dc.authorid0000-0001-6172-7762
dc.authorid0000-0002-2686-9762
dc.authorid0000-0003-4277-3880
dc.authorid0000-0002-3176-4850
dc.authorid0000-0002-1730-2991
dc.authorid0000-0001-9680-7535
dc.authorid0000-0003-0717-8365
dc.authorid0000-0002-6990-4206
dc.authorid0000-0002-9339-4031
dc.authorid0000-0002-3734-1242
dc.authorid0000-0001-8889-2688
dc.authorid0000-0001-7129-2109
dc.authorid0000-0003-2598-5806
dc.authorid0000-0001-6902-624X
dc.authorid0000-0002-3073-9098
dc.authorid0000-0001-6214-1974
dc.authorid0000-0002-6150-3539
dc.authorid0000-0003-2544-8648
dc.contributor.authorYaşar Bilge, Şule
dc.contributor.authorSolmaz, Dilek
dc.contributor.authorŞenel, Soner
dc.contributor.authorEmmungil, Hakan
dc.contributor.authorKılıç, Levent
dc.contributor.authorÖner, Sibel Yılmaz
dc.contributor.authorYıldız, Fatih
dc.contributor.authorYılmaz, Sedat
dc.contributor.authorErsözlü Bozkırlı, Duygu
dc.contributor.authorAydın Tufan, Müge
dc.contributor.authorYılmaz, Sema
dc.contributor.authorYazısız, Veli
dc.contributor.authorPehlivan, Yavuz
dc.contributor.authorBeş, Cemal
dc.contributor.authorYıldırım Çetin, Gözde
dc.contributor.authorErten, Şükran
dc.contributor.authorGönüllü, Emel
dc.contributor.authorŞahin, Fezan
dc.contributor.authorAkar, Servet
dc.contributor.authorAksu, Kenan
dc.contributor.authorKalyoncu, Umut
dc.contributor.authorDireskeneli, Haner
dc.contributor.authorErken, Eren
dc.contributor.authorKısacık, Bünyamın
dc.contributor.authorSayarlıoğlu, Mehmet
dc.contributor.authorÇınar, Muhammed
dc.contributor.authorKaşifoğlu, Timuçin
dc.contributor.authorSarı, İsmail
dc.date.accessioned2020-03-26T20:14:10Z
dc.date.available2020-03-26T20:14:10Z
dc.date.issued2019
dc.departmentSelçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractObjective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n: 1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.en_US
dc.identifier.citationBilge, Ş. Y., Solmaz, D., Şenel, S., Emmungil, H., Kılıç, L., Öner, S. Y., Yıldız, F., Yılmaz, S., Bozkırlı, D. E., Tufan, M. A., Yılmaz, S., Yazısız, V., Pehlivan, Y., Beş, C., Çetin, G. Y., Erten, Ş., Gönüllü, E., Şahin, F., Akar, S., Aksu, K., Kalyoncu, U., Direskeneli, H., Erken, E., Kısacık, B., Sayarlıoğlu, M., Çınar, M., Kaşifoğlu, T., Sarı, İ. (2019). Exon 2: Is it the Good Police in Familial Mediterranean Fever?. European Journal of Rheumatology, 6(1), 34-37.
dc.identifier.doi10.5152/eurjrheum.2018.18115en_US
dc.identifier.endpage37en_US
dc.identifier.issn2147-9720en_US
dc.identifier.issn2148-4279en_US
dc.identifier.issue1en_US
dc.identifier.pmid30489254en_US
dc.identifier.startpage34en_US
dc.identifier.urihttps://dx.doi.org/10.5152/eurjrheum.2018.18115
dc.identifier.urihttps://hdl.handle.net/20.500.12395/37831
dc.identifier.volume6en_US
dc.identifier.wosWOS:000463722100007en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorYılmaz, Sema
dc.language.isoenen_US
dc.publisherAVESen_US
dc.relation.ispartofEUROPEAN JOURNAL OF RHEUMATOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectE148Qen_US
dc.subjectexon 2en_US
dc.subjectexon 10en_US
dc.subjectfamilial Mediterranean feveren_US
dc.subjectM694Ven_US
dc.titleExon 2: Is it the good police in familial mediterranean fever?en_US
dc.typeArticleen_US

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