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Italy: Pemphigus Vulgaris

  • March 07, 2019

High-Resolution Melting Analysis to screen the ST18 Gene functional risk variant for Pemphigus Vulgaris

Maria De Bonis, Elisa De Paolis, Giovanni Luca Scaglione, Luca Fania, Maria Michela Lavieri, Cinzia Mazzanti, Giovanni Di Zenzo, Angelo Minucci, Ettore Capoluongo  | UOC Laboratory Medicine, Genetics and Toxicology; Department of Dermatology; Unit of; Molecular and Cell Biology Laboratory – IDI-IRCCS, FLMM, Fondazione Luigi Maria Monti, Via Monti di Creta 104, Rome, Italy; Polo Scienze per Immagini, di Laboratorio e Infettivologiche, “Agostino Gemelli” Foundation IRCCS, Rome, Italy | 2018

Pemphigus vulgaris (PV) is an autoimmune bullous disease that causes painful blistering of the skin. The study performed a High-Resolution Melting (HRM) assay that was conducted on the MIC to screen the ST18rs17315309 variant in PV patients. The HRM assay was highly sensitive and easily identified the c.497-65050T>C genotypes.

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