Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration

Yi, Z; Li, SQ; Wang, SY; Xiao, XS; Sun, WM; Zhang, QJ

Zhang, QJ (通讯作者)，Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou 510060, Peoples R China.

EYE, 2022; 36 (12): 2279

Abstract

Objectives To systematically analyse the NMNAT1 variant spectrum and frequency, the associated phenotypic characteristics, and potential genotype-phen......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索