Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion

• 主要な著者: M. Plebani (著者), D. Basso (著者), M. Razetti (著者), M. Miorin (著者), F. Navaglia (著者), A. Furlan (著者), A. Gava (著者), L. Punzi (著者)
• フォーマット: 図書
• 出版事項: PAGEPress Publications, 2011-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Objectives: We developed a genetic investigation using denaturing high performance liquid chromatography (DHPLC), in order to identify polymorphisms of the gene MVK in patients with autoinflammatory syndrome suspicion. Methods: We evaluated 19 patients affected by recurrent fevers and other clinical...