In addition to these criteria, the DNA sequence of the whole MEFV
gene in each patient was performed by Sanger DNA sequencing method to support the clinical diagnosis.
mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.
gene defects in FMF have been well described with mutations clustering at the C-terminus and presumed to affect interactions with regulatory molecules such as 14-33 .
In this cross-sectional descriptive study, healthy parents of FMF patients had been evaluated about MEFV
AAA hastalari Tel Hashomer klinik kriterlerine gore tani almis ve MEFV
mutasyon analizleri ise ekzon sekanslama yontemi ile belirlenmis idi (16).
Yilmaz et al., "MEFV
gene mutations in a patient with eosinophilic gastroenteritis," Southern Medical Journal, vol.
Additionally, the Periodic Fever Syndromes Panel was performed (testing for LPIN2, MEFV
, MVK, NLRP3, PSTPTP1, and TNFRSF1A) and returned positive for MEFV
(Mediterranean fever) with nucleic acid change c.
The first, familial Mediterranean fever (FMF), also known as Armenian disease, results from a mutation in the MEFV
gene and occurs among those of Sephardic and Ashkenazi Jewish, Middle Eastern Arab, Armenian, Italian, North African or Turkish ethnicities.
Previous publications have suggested that mutations of the MEFV
gene were involved in the pathogenesis of patients with HLA-B27 negative ankylosing spondylitis (AS).
After identification and isolation of the gene responsible for FMF (MEFV
) on the short arm of chromosome 16, diagnosis of FMF became more reliable.
She has been taking colchicine to treat familial Mediterranean fever (FMF) since she was 14 (a MEFV
gene mutation was present).
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