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

• मुख्य लेखकों: M. Plebani (लेखक), D. Basso (लेखक), M. Razetti (लेखक), M. Miorin (लेखक), F. Navaglia (लेखक), A. Furlan (लेखक), A. Gava (लेखक), L. Punzi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: PAGEPress Publications, 2011-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...