Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene
两个同父异母兄弟因遗传 306 Kb 的 10p15.1 反向插入到 DMD 基因 Dp427m 转录本的内含子 44 而患上杜氏肌营养不良症
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms252211922
Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik, Bryce Turner, Jennifer Sloan, Nishant Tiwari, Saunder M Bernes, Derek E Neilson, Meredith Sanchez-Castillo, Matt J Huentelman, Vinodh Narayanan