Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family
在巴基斯坦一个多重近亲结婚家族中发现与双侧无眼症相关的ALDH1A3蛋白截短剪接位点变异
期刊:International Journal of Ophthalmology
影响因子:1.8
doi:10.18240/ijo.2025.11.05
Samad, Kashmala; Alzahrani, Khalid J; Alsharif, Khalaf F; Samad, Fazeelat; Ullah, Farman; Ali, Muhammad Zeeshan; Ahmad, Safeer; Muzammal, Muhammad; Abbasi, Sumra Wajid; Khan, Jabbar; Khan, Muzammil Ahmad