The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey
 
Yazarlar (9)
Aydın Ece
Dicle Üniversitesi, Türkiye
Erdal Çakmak
Sevgi Hospital, Türkiye
Ünal Uluca
Dicle Üniversitesi, Türkiye
Selvi Kelekçi
Dicle Üniversitesi, Türkiye
İlyas Yolbaş Dicle Üniversitesi, Türkiye
Prof. Dr. Ali GÜNEŞ Dicle Üniversitesi, Türkiye
Servet Yel Yüzüncü Yıl Üniversitesi, Türkiye
İlhan Tan
Dicle Üniversitesi, Türkiye
Velat Şen Dicle Üniversitesi, Türkiye
Makale Türü Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
Dergi Adı Rheumatology International
Dergi ISSN 0172-8172 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SSCI
Makale Dili İngilizce Basım Tarihi 09-2014
Cilt / Sayı / Sayfa 34 / 2 / 207–212 DOI 10.1007/s00296-013-2858-1
Makale Linki http://link.springer.com/10.1007/s00296-013-2858-1
Özet
The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family …
Anahtar Kelimeler
Clinical findings | Familial Mediterranean fever | MEFV gene | Mutations | Southeast Turkey
BM Sürdürülebilir Kalkınma Amaçları
Atıf Sayıları
Google Scholar 80
Scopus 47
Web of Science 42
The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

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