JI Arostegui

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Question The diagnosis of mevalonate kinase deficiency is often delayed, due to the rarity and phenotypic heterogeneity of the disease. We evaluated the autoinflammatory genetic makeup of 4 referrals suspected to have MKD. Methods Exons 2-11 of the mevalonate kinase gene, exon 10 of MEFV, exons 2-4 of TNFRSF1A and exon 3 of NLRP3 were Sanger sequenced in(More)