Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
病例报告:DMD中一种新的深内含子剪接改变变异是贝克尔肌营养不良症的病因
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1226766
Berntsson, Shala Ghaderi; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter; van Duyvenvoorde, Hermine A; Richel-van Assenbergh, Cindy; van der Klift, Heleen M; Casar-Borota, Olivera; Frykholm, Carina; Landtblom, Anne-Marie