High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
高灵敏度微卫星不稳定性评估用于检测双等位基因生殖系错配修复突变携带者正常组织中的错配修复缺陷
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2019-106272
González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin, Benoît; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Jürgen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, Thomas; Demirsoy, Ugur; Brunet, Joan; Lázaro, Conxi; Rueda, Daniel; Wimmer, Katharina; Capellá, Gabriel; Pineda, Marta