ArticleMolecular biology reports2011
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
Article in Molecular biology reports, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significanceTurkish journal of medical sciences · 2021Article
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.Molecular biology reports · 2021Article
- Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis.Clinical rheumatology · 2017Article
- TheBalkan journal of medical genetics : BJMG · 2016Article
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- Glutathione-S-Transferase Variants are not Associated With Increased Carotid Intima-Media Thickness in Turkish Familial Mediterranean Fever Patients.Archives of rheumatology · 2016Article
- The Relationship between NALP3 and Autoinflammatory Syndromes.International journal of molecular sciences · 2016Review
- Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.Journal of genetics · 2015Article
- FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.Iranian journal of basic medical sciences · 2015Article
- MEFV mutations in Northwest of Iran: a cross sectional study.Iranian journal of basic medical sciences · 2015Article
- Frequencies of the Common MEFV Gene Mutations in Adiyaman, Southeast Anatolia, Turkey.Balkan journal of medical genetics : BJMG · 2014Article
- 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 · 2014Article
- Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study.Molecular biology reports · 2012Article
- Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.Annals of Saudi medicineArticle
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.
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