Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia.
病例报告：SPTB 基因中一种新的杂合剪接供体 (c.647+1G>A) 位点突变的鉴定和功能表征，该突变导致遗传性球形红细胞症伴溶血性贫血。
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1626155
Cao Ke, Luo Xiaojuan, Liu Lianlian, Mao Xiaoning, Liu Ruping, Chen Yunsheng, Banerjee Santasree
