The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever
✍ Scribed by Tunca, Mehmet; Akar, Servet; Hawkins, Philip N; Booth, Susanne E; Şengül, Bülent; Yavuzşen, Tugba Ulaş; Öktem, Selda; Soytürk, Müjde; Akkoç, Nurullah; Booth, David R
- Book ID
- 110025320
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 64 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1018-4813
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Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis, common in populations of Armenian, Arab, Sephardic Jewish and Turkish origin. Early diagnosis is crucial to start colchicine therapy that prevents the occurrence of attack
The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequence alterations (M680I, M694V, M694I and V726A) were identified at the 3'-most exon. We genotyped 170 unrelated FMF patients from various ethnic groups in Israel and found that mutation M694V predominat