Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
在谷氨酰胺酶缺乏症和新生儿癫痫性脑病背景下鉴定功能丧失突变
期刊:Jama Neurology
影响因子:21.3
doi:10.1001/jamaneurol.2018.2941
Rumping, Lynne; Büttner, Benjamin; Maier, Oliver; Rehmann, Holger; Lequin, Maarten; Schlump, Jan-Ulrich; Schmitt, Bernhard; Schiebergen-Bronkhorst, Birgit; Prinsen, Hubertus C M T; Losa, Michele; Fingerhut, Ralph; Lemke, Johannes R; Zwartkruis, Fried J T; Houwen, Roderick H J; Jans, Judith J M; Verhoeven-Duif, Nanda M; van Hasselt, Peter M; Jamra, Rami