Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
SAMD9L 功能获得性突变会导致细胞减少、免疫缺陷、骨髓增生异常综合征和神经系统症状等综合征。
期刊:Blood
影响因子:23.1
doi:10.1182/blood-2016-10-743302
Tesi, Bianca; Davidsson, Josef; Voss, Matthias; Rahikkala, Elisa; Holmes, Tim D; Chiang, Samuel C C; Komulainen-Ebrahim, Jonna; Gorcenco, Sorina; Rundberg Nilsson, Alexandra; Ripperger, Tim; Kokkonen, Hannaleena; Bryder, David; Fioretos, Thoas; Henter, Jan-Inge; Möttönen, Merja; Niinimäki, Riitta; Nilsson, Lars; Pronk, Cornelis Jan; Puschmann, Andreas; Qian, Hong; Uusimaa, Johanna; Moilanen, Jukka; Tedgård, Ulf; Cammenga, Jörg; Bryceson, Yenan T