Impact of MEFV genotype in Caucasian children with periodic fever
نویسندگان
چکیده
Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv) 1 high penetrance mutation, v) one low penetrance mutation, vi) genetically negative.
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