Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

• Asıl Yazarlar: Alain Calender (Yazar), Pierre Antoine Rollat Farnier (Yazar), Adrien Buisson (Yazar), Stéphane Pinson (Yazar), Abderrazzaq Bentaher (Yazar), Serge Lebecque (Yazar), Harriet Corvol (Yazar), Rola Abou Taam (Yazar), Véronique Houdouin (Yazar), Claire Bardel (Yazar), Pascal Roy (Yazar), Gilles Devouassoux (Yazar), Vincent Cottin (Yazar), Pascal Seve (Yazar), Jean-François Bernaudin (Yazar), Clarice X. Lim (Yazar), Thomas Weichhart (Yazar), Dominique Valeyre (Yazar), Yves Pacheco (Yazar), Annick Clement (Yazar), Nadia Nathan (Yazar), in the frame of GSF (Groupe Sarcoïdose France) (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo...