1. Spectrum of mutations of familial Mediterranean fever gene in Iranian population
- Author
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Yahya Aghighi, Vahid Ziaee, Cyrus Azimi, Seyyed Reza Raeeskarami, Abbas Shakoori, Tayebeh Sabokbar, and Ali malayeri
- Subjects
Mutation ,business.industry ,Familial Mediterranean fever ,Disease ,medicine.disease ,medicine.disease_cause ,MEFV ,Pyrin domain ,Ashkenazi jews ,Iranian population ,Immunology ,Genetics ,medicine ,Animal Science and Zoology ,business ,Gene - Abstract
Introduction Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder caused by a mutation in MEFV, a gene which encodes a 781-amino acid protein called pyrin . The classic clinical picture consists of recurrent febrile episodes that are usually of an acute onset, variable frequency, sometimes without a recognized triggering factor, but often occurring with menstruation, emotional stress or strenuous physical activity . FMF is usually an autosomal recessive disorder. The disease affects populations of Mediterranean origin: Ashkenazi Jews, North African Jews, Armenians, Arabs, Italians, and Turks. The gene causing FMF was cloned in 1997 . The gene responsible for FMF (MEFV) is located on the short Abstract
- Published
- 2014
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