Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
由PGM2L1双等位基因突变引起的葡萄糖-1,6-二磷酸生成受损与神经发育障碍有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.04.017
Morava, Eva; Schatz, Ulrich A; Torring, Pernille M; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T; Van Schaftingen, Emile; Veiga-da-Cunha, Maria