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Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

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https://www.readbyqxmd.com/read/16835861/mutational-spectrum-and-genotype-phenotype-correlations-in-mevalonate-kinase-deficiency
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Saskia H L Mandey, Marit S Schneiders, Janet Koster, Hans R Waterham
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different mutations including 15 novel mutations, expanding the total mutational spectrum of MKD to 63 mutations. To get more insight into the genotype-phenotype correlation in MKD, we studied the effect of selected missense mutations on MK protein stability and activity in various patient fibroblast cell lines...
August 2006: Human Mutation
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