Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
STT3A活性位点变异会导致一种显性遗传的I型先天性糖基化障碍,并伴有神经肌肉骨骼系统症状。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.09.012
Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J