MEFV mutations - therapeutic guides or red herrings?
نویسندگان
چکیده
Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is not very strong, indicating the presence of other modifying factors which alter clinical manifestation. We describe 2 children with autoinflammtory symptoms, who had MEFV mutations, the significance of which we are unsure of.
منابع مشابه
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
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