Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease
长读测序揭示了 RFC1 相关帕金森病中复杂的双等位基因五核苷酸重复扩增
期刊:Npj Parkinsons Disease
影响因子:6.7
doi:10.1038/s41531-025-00868-6
Peng Liu #, Fan Zhang #, Xinhui Chen #, Xiaosheng Zheng, Miao Chen, Zhiru Lin, Shuqi Chen, Lebo Wang, Xinchen Wang, Nan Jin, Chenxin Ying, Fei Xie, Bo Wang, Sheng Wu, Zhidong Cen, Wei Luo