Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology
利用计算结构生物学评估在意大利患有贝斯特卵黄状黄斑营养不良症的患者中发现的新BEST1变异体的致病性
期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-019-2080-3
Frecer, Vladimir; Iarossi, Giancarlo; Salvetti, Anna Paola; Maltese, Paolo Enrico; Delledonne, Giulia; Oldani, Marta; Staurenghi, Giovanni; Falsini, Benedetto; Minnella, Angelo Maria; Ziccardi, Lucia; Magli, Adriano; Colombo, Leonardo; D'Esposito, Fabiana; Miertus, Jan; Viola, Francesco; Attanasio, Marcella; Maggio, Emilia; Bertelli, Matteo