Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB
16 名患有慢性肉芽肿病变异型的患者的临床、功能和遗传特征 - CYBB 中 11 个新突变的鉴定
期刊:Clinical and Experimental Immunology
影响因子:3.4
doi:10.1111/cei.13520
M Mollin, S Beaumel, B Vigne, J Brault, N Roux-Buisson, J Rendu, V Barlogis, G Catho, C Dumeril, F Fouyssac, D Monnier, V Gandemer, M Revest, J-P Brion, C Bost-Bru, E Jeziorski, L Eitenschenck, C Jarrasse, S Drillon Haus, M Houachée-Chardin, M Hancart, G Michel, Y Bertrand, D Plantaz, J Kelecic, R T