摘要 : Background: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients
| 作者 | Chen~ Rui Yuan~ Zhisheng Dong~ Fangtian Sui~ Ruifang Li~ Huajin Jones~ Evan M. Li~ Hui Yang~ Lizhu Sun~ Zixi |
|---|---|
| 作者单位 | |
| 期刊名称 | 《Ophthalmic genetics》 |
| 总页数 | 8 |
| 语种/中图分类号 | 英语 / R77 |
| 关键词 | ADOA hearing loss NGS OPA1 |
| 馆藏号 | N2007EPST0000545 |
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