Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
信号识别颗粒 SRP54 突变导致具有 Shwachman-Diamond 样特征的综合征性中性粒细胞减少症
期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI92876
Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S Leduc, Yaping Yang, Katie L Bergstrom, Donald H Mahoney, Deborah L Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S Müller, Elisa Alghisi, Loï
