P01-006 – MEFV mutation detection in Arabic patients

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منابع مشابه

P01-006 – MEFV mutation detection in Arabic patients

Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....

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P01-028 – MEFV mutation in Morrocan child wuth familial Mediterranean fever

Introduction Familial Mediterranean Fever ( FMF ) is an autosomal recessive inherited disease mostly wide spread in the Mediterranean basin. It is manifested by a fever associated with paroxystic painful attacks. The prognosis is determined by the occurrence of renal amyloidosis. The purpose of our work is to establish a genotypephenotype correlation between the MEFV gene mutation and the expre...

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P01-022 – MEFV gene mutations registered to infevers

Methods Bidirectional DNA Sequencing analysis of MEFV gene in all coding exons and exon-intron boundaries was performed in Turkish patients clinically pre-diagnosed as FMF consulted in Ege University School of Medicine between years 2009-2013 (n=8000) and in healthy control group individuals (n=250). For patients who were mutation negative in screened exons, exons 1, 4, 6, 7, 8, and 9 were also...

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MEFV gene mutation distrubution in Azerbaijan population

Introduction Familial Mediterranean fever (FMF)(MIM 249100) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene(OMIM 608107) located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian d...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a10