Article
The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kirikkale University in Turkey.
Molecular biology reports - 1 Apr 2009
Gunel-Ozcan Aysen, Sayin Derya Beyza, Misirlioğlu Emine Dibek, Güliter Sefa, Yakaryilmaz Fahri, Ensari Cuneyt
Abstract excerpt
Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the...
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