Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
台湾新生儿法布里病筛查发现晚发型 GLA 突变 c.936+919G>A (IVS4+919G>A) 的发病率很高
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21074
Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Chiang, Shu-Chuan; Dobrovolny, Robert; Huang, Ai-Chu; Yeh, Hui-Ying; Chao, May-Chin; Lin, Shio-Jean; Kitagawa, Teruo; Desnick, Robert J; Hsu, Li-Wen