Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction
SLC7A14基因突变会导致溶酶体功能障碍介导的听神经病变和视网膜色素变性。
期刊:Science Advances
影响因子:12.5
doi:10.1126/sciadv.abk0942
Giffen, Kimberlee P; Li, Yi; Liu, Huizhan; Zhao, Xiao-Chang; Zhang, Chang-Jun; Shen, Ren-Juan; Wang, Tianying; Janesick, Amanda; Chen, Bo-Bei; Gong, Shu-Sheng; Kachar, Bechara; Jin, Zi-Bing; He, David Z