Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
对疑似林奇综合征患者中发现的 MSH2 未分类变异的功能分析揭示了由于错配修复减弱而导致的致病性
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2013-101987
Eva A L Wielders, Jan Hettinger, Rob Dekker, C Marleen Kets, Marjolijn J Ligtenberg, Arjen R Mensenkamp, Ans M W van den Ouweland, Judith Prins, Anja Wagner, Winand N M Dinjens, Hendrikus Jan Dubbink, Liselotte P van Hest, Fred Menko, Frans Hogervorst, Senno Verhoef, Hein te Riele