Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
GNPTAB 和 GNPTG 中的致病变异编码了 GlcNAc-1-磷酸转移酶的不同亚基，对 II 型和 III 型粘脂病患者的骨吸收有不同的影响
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-021-01285-9
Giorgia Di Lorenzo #, Lena M Westermann #, Timur A Yorgan, Julian Stürznickel, Nataniel F Ludwig, Luise S Ammer, Anke Baranowsky, Shiva Ahmadi, Elham Pourbarkhordariesfandabadi, Sandra R Breyer, Tim N Board, Anne Foster, Jean Mercer, Karen Tylee, Renata Voltolini Velho, Michaela Schweizer, Thomas Re
