Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
对符合美国国立卫生研究院 (NIH) 标准的典型 NF1 患者进行 NF1 基因的全面 RNA 分析，具有高灵敏度，且在仅有色素沉着特征的散发病例中，突变检测结果为阴性，令人安心。
期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2016.04.005
Evans, D G; Bowers, N; Burkitt-Wright, E; Miles, E; Garg, S; Scott-Kitching, V; Penman-Splitt, M; Dobbie, A; Howard, E; Ealing, J; Vassalo, G; Wallace, A J; Newman, W; Huson, S M
