Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
GFPT1基因移码插入突变引起的先天性重症肌无力综合征
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000468
Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P; Shieh, Perry B; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L; Russell, Megan; Richholt, Ryan; Both, Matt De; Claasen, Ana M; Schrauwen, Isabelle; Nelson, Stanley F; Huentelman, Matthew J; Craig, David W; Yang, Samuel P; Moore, Steven A; Sivakumar, Kumaraswamy; Narayanan, Vinodh; Rangasamy, Sampathkumar
