ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
ALG13 X连锁智力障碍:新变异、糖基化分析和扩展表型
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12378
Alsharhan, Hind; He, Miao; Edmondson, Andrew C; Daniel, Earnest J P; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J; Jones, Elizabeth A; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H; Jin, Sheng C; Bilguvar, Kaya; Christodoulou, John; Webster, Richard I; Yearwood, Katherine R; Ng, Bobby G; Freeze, Hudson H; Kruer, Michael C; Li, Dong; Raymond, Kimiyo M; Bhoj, Elizabeth J; Sobering, Andrew K