Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency
Omenn 综合征与因 CARD11 缺陷的体细胞第二位点突变导致的功能逆转有关
期刊:Blood
影响因子:21
doi:10.1182/blood-2015-03-631374
Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, St
