Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
GLS基因短串联重复序列扩增引起的谷氨酰胺酶缺乏症
期刊:New England Journal of Medicine
影响因子:78.5
doi:10.1056/NEJMoa1806627
van Kuilenburg, André B P; Tarailo-Graovac, Maja; Richmond, Phillip A; Drögemöller, Britt I; Pouladi, Mahmoud A; Leen, René; Brand-Arzamendi, Koroboshka; Dobritzsch, Doreen; Dolzhenko, Egor; Eberle, Michael A; Hayward, Bruce; Jones, Meaghan J; Karbassi, Farhad; Kobor, Michael S; Koster, Janet; Kumari, Daman; Li, Meng; MacIsaac, Julia; McDonald, Cassandra; Meijer, Judith; Nguyen, Charlotte; Rajan-Babu, Indhu-Shree; Scherer, Stephen W; Sim, Bernice; Trost, Brett; Tseng, Laura A; Turkenburg, Marjolein; van Vugt, Joke J F A; Veldink, Jan H; Walia, Jagdeep S; Wang, Youdong; van Weeghel, Michel; Wright, Galen E B; Xu, Xiaohong; Yuen, Ryan K C; Zhang, Jinqiu; Ross, Colin J; Wasserman, Wyeth W; Geraghty, Michael T; Santra, Saikat; Wanders, Ronald J A; Wen, Xiao-Yan; Waterham, Hans R; Usdin, Karen; van Karnebeek, Clara D M