第一作者:
Adi,Aran
第一单位:
From the Neuropediatric Unit (A.A.) and Medical Genetics (R.S., P.R., A.W.-S., S.Z., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., R.S., A.W.-S., E.L.-L.), Jerusalem, Israel; Department of Chemistry and Biochemistry (K.K., S.O., S.M.P.), University of California, Santa Barbara; Faculty of Medicine (T.M., Y.H., A.O.S.), Bar Ilan University, Safed, Israel; and Departments of Medicine and Genome Sciences (S.G., M.K.L., M.-C.K., T.W.), University of Washington, Seattle.
作者:
医学主题词
成年人(Adult);动物(Animals);精氨酸(Arginine);家庭卫生(Family Health);甘氨酸(Glycine);人类(Humans);男(雄)性(Male);小鼠(Mice);小鼠, 转基因(Mice, Transgenic);突变(Mutation);肌无力综合征, 先天性(Myasthenic Syndromes, Congenital);PC12细胞(PC12 Cells);蛋白质加工, 转译后(Protein Processing, Post-Translational);RNA, 信使(RNA, Messenger);大鼠(Rats);转染(Transfection);囊泡乙酰胆碱转运蛋白质类(Vesicular Acetylcholine Transport Proteins)
DOI
10.1212/WNL.0000000000003720
PMID
28188302
发布时间
2021-12-16
- 浏览19
Neurology
1021-1028页
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