Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy
光学基因组图谱分析发现，杜氏肌营养不良症患者体内存在破坏DMD基因的平衡倒位。
期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-025-00743-2
Turtinen, Tuuni; Isohanni, Pirjo; Anttonen, Anna-Kaisa; Huhti, Leena; Pylkäs, Katri; Tikkanen, Marketta; Hakonen, Anna H; Strang-Karlsson, Sonja; Mantere, Tuomo
