Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
长读长测序可识别脊髓性肌萎缩症中 SMN 基因转换的拷贝特异性标记
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01448-2
Zwartkruis M M, Elferink M G, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens I J, Green J W, Kortooms J V, Vermeulen C, Straver R, van Deutekom H W M, Veldink J H, Asselman F, Tizzano E F, Wadman R I, van der Pol W L, van Haaften G W, Groen E J N