Article
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
Pediatric rheumatology online journal - 10 Jul 2020
d'Adamo Adamo Pio, Bianco Anna Monica, Ferrara Giovanna, La Bianca Martina, Insalaco Antonella, Tommasini Alberto, Pardeo Manuela, Cattalini Marco, La Torre Francesco, Finetti Martina, Alizzi Clotilde, Simonini Gabriele, Messia Virginia, Pastore Serena, Cimaz Rolando, Gattorno Marco, Taddio Andrea
Abstract excerpt
BACKGROUND: FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO). METHODS: The coding regions of FBLIM1 gene were sequenced in a cohort of 80 patients with CNO using DNA extracted from blood lymphocytes,...
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