Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
GATA2 同义突变会导致突变 RNA 的选择性丢失,在 GATA2 缺陷患者中很常见。
期刊:Leukemia
影响因子:13.4
doi:10.1038/s41375-020-0899-5
Kozyra, Emilia J; Pastor, Victor B; Lefkopoulos, Stylianos; Sahoo, Sushree S; Busch, Hauke; Voss, Rebecca K; Erlacher, Miriam; Lebrecht, Dirk; Szvetnik, Enikoe A; Hirabayashi, Shinsuke; Pasaulienė, Ramunė; Pedace, Lucia; Tartaglia, Marco; Klemann, Christian; Metzger, Patrick; Boerries, Melanie; Catala, Albert; Hasle, Henrik; de Haas, Valerie; Kállay, Krisztián; Masetti, Riccardo; De Moerloose, Barbara; Dworzak, Michael; Schmugge, Markus; Smith, Owen; Starý, Jan; Mejstrikova, Ester; Ussowicz, Marek; Morris, Emma; Singh, Preeti; Collin, Matthew; Derecka, Marta; Göhring, Gudrun; Flotho, Christian; Strahm, Brigitte; Locatelli, Franco; Niemeyer, Charlotte M; Trompouki, Eirini; Wlodarski, Marcin W