RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics
培养的外周血淋巴细胞的RNA测序提高了罕见病诊断中隐匿性剪接缺陷的识别率
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/9635551
Ren, Jinlin; Dai, Congling; Meng, Fei; Zhang, Pan; Xie, Chunbo; Xiao, Wenjuan; He, Wenbin; Yuan, Shimin; Li, Xiurong; Zhang, Qianjun; Tang, Weiling; Hu, Liang; Chen, Zixu; Lu, Guangxiu; Du, Juan; Zeng, Sicong; Lin, Ge