A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
一种灵敏且可扩展的微卫星不稳定性检测方法，通过对外周血白细胞进行测序来诊断先天性错配修复缺陷
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23721
Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören-Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P; Ripperger, Tim; Azizi, Amedeo A; Baris Feldman, Hagit; Chong, Anne-Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Januszkiewicz-Lewandowska, Danuta; Lobitz, Stephan; Nathrath, Michaela; Pander, Hans-Jürgen; Perez-Alonso, Vanesa; Perne, Claudia; Ragab, Iman; Rosenbaum, Thorsten; Rueda, Daniel; Seidel, Markus G; Suerink, Manon; Taeubner, Julia; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M; Burn, John; Jackson, Michael S; Santibanez-Koref, Mauro; Wimmer, Katharina
