Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
莱伯遗传性视神经病变的患病风险和外显率真的低吗?
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.11.014
Mackey, David A; Ong, Jue-Sheng; MacGregor, Stuart; Whiteman, David C; Craig, Jamie E; Lopez Sanchez, M Isabel G; Kearns, Lisa S; Staffieri, Sandra E; Clarke, Linda; McGuinness, Myra B; Meteoukki, Wafaa; Samuel, Sona; Ruddle, Jonathan B; Chen, Celia; Fraser, Clare L; Harrison, John; Howell, Neil; Hewitt, Alex W