Article
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
European journal of human genetics : EJHG - 1 Mar 2005
D'Osualdo Andrea, Picco Paolo, Caroli Francesco, Gattorno Marco, Giacchino Raffaella, Fortini Patrizia, Corona Fabrizia, Tommasini Alberto, Salvi Giuseppe, Specchia Fernando, Obici Laura, Meini Antonella, Ricci Antonio, Seri Marco, Ravazzolo Roberto, Martini Alberto, Ceccherini Isabella
Abstract excerpt
Autosomal recessive autoinflammatory disorder caused by mutations of the mevalonate kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been known so far as Hyper-IgD and periodic fever syndrome (HIDS) and regarded as mostly occurring in Northern Europe. Here we report the results of the molecular characterization of the first Italian series of patients affected with autoinflammatory...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.