TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
伊朗患者中的TPP1变异:一种导致神经元蜡样脂褐质沉积症2的新型致病性纯合变异
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000534100
Vafaei, Nahid; Mohebbi, Ali; Rezaei, Zahra; Heidari, Morteza; Hosseinpour, Sareh; Dehnavi, Ali Zare; Ghamari, Azin; Salehipour, Masoud; Rabbani, Ali; Mahdieh, Nejat; Ashrafi, Mahmoud Reza