The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.
Blood Science (Baltimore, Md.)
Wu, Hongfei H; Ren, Xiang X; Ge, Meili M; Dong, Peiyuan P; Wang, Shichong S; Yi, Huiming H; Li, Xingxin X; Huo, Jiali J; Zheng, Xuan X; Gao, Mengying M; Huang, Jinbo J; Zhang, Jing J; Wang, Min M; Jin, Peng P; Nie, Neng N; Shao, Yingqi Y; Zheng, Yizhou Y
Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC