机译:ATP6AP2中的突变与具有自噬缺陷的先天性疾病与糖基化的先天性疾病相关联
Univ Leuven KU Leuven Dept Human Genet Leuven Belgium;
Imagine Inst Lab Epithelial Biol &
Dis Paris France;
Imagine Inst Lab Epithelial Biol &
Dis Paris France;
Inst Necker Enfants Malad INEM Paris France;
Univ Klinikum Munster Klin Kinder &
Jugendmed Munster Germany;
Univ Porto Abel Salazar Inst Biomed Sci Ctr Genet Med Doutor Jacinto Magalhaes CGMJM Ctr Hosp;
Northwestern Univ Feinberg Sch Med Chicago IL 60611 USA;
Univ Lille CNRS UMR 8576 Unite Glycobiol Struct &
Fonct Lille France;
Univ Lille CNRS UMR 8576 Unite Glycobiol Struct &
Fonct Lille France;
Univ Leuven KU Leuven Dept Human Genet Leuven Belgium;
Univ Klinikum Munster Klin Kinder &
Jugendmed Munster Germany;
Imagine Inst Lab Epithelial Biol &
Dis Paris France;
机译:ATP6AP2中的突变与具有自噬缺陷的先天性疾病与糖基化的先天性疾病相关联
机译:糖基化位点的转铁蛋白突变使I型先天性糖基化疾病的诊断复杂化。
机译:糖基化位点的运铁蛋白突变使先天性糖基化I型疾病的诊断复杂化
机译:先天性糖基化(CDG)的先天性疾病:概述
机译:秀丽隐杆线虫的先天性糖基化疾病建模:N-连锁糖基化的遗传影响和结构后果
机译:X连锁的ATP6AP2中的突变会导致糖基化障碍并伴有自噬缺陷
机译:X连锁的ATP6AP2中的突变会导致糖基化障碍并伴有自噬缺陷