SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
通过SMA新生儿筛查假阳性结果识别出的SMN1变异:治疗难题及功能和流行病学解决方案
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2026.01.012
Wirth, Brunhilde; Das, Joyosmita; Kölbel, Heike; Goh, Shuxiang; Farrar, Michelle A; Piano, Valentina; Zetzsche, Sebastian; Fuhrmann, Nico; Becker, Jutta; Karakaya, Mert; Zhang, Yougang; Cao, Yuqing; Taghipour-Sheshdeh, Afsaneh; Stringer, Brett W; Giacomotto, Jean