Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

by Carine El Sissy, Jérémie Rosain, Paula Vieira-Martins, Pauline Bordereau, Aurélia Gruber, Magali Devriese, Loïc de Pontual, Muhamed-Kheir Taha, Claire Fieschi, Claire Fieschi, Capucine Picard, Capucine Picard, Véronique Frémeaux-Bacchi, Véronique Frémeaux-Bacchi
Published 2019-08-01

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

by Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Published 2018-01-01