Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
对经典晚期婴儿神经元蜡样脂褐质沉积症（一种神经退行性溶酶体贮积症）中缺陷蛋白酶的突变分析
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/302427
Sleat, D E; Gin, R M; Sohar, I; Wisniewski, K; Sklower-Brooks, S; Pullarkat, R K; Palmer, D N; Lerner, T J; Boustany, R M; Uldall, P; Siakotos, A N; Donnelly, R J; Lobel, P
