Authors: Xu Chunlong, Zhang Guowei, Du Jun, Jia Zhen, Wang Jingping, Wang Ziwen, Li Yang Lu Hong DOI: 10.3760/cma.j.cn115989-20240304-00063 Published： 2024 -10 -10 Citation: Xu Chunlong, Zhang Guowei, Du Jun, et al. Effect and mechanism of VSIG4 gene mutation on the function of microglia in retinitis pigmentosa[J]. Chin J Exp Ophthalmol, 2024, 42(10): 898-908. DOI: 10.3760/cma.j.cn115989-20240304-00063. ABSTRACT […]
Tag: Genetic mutation
Genotypic and phenotypic analysis of RHO gene variants in a Chinese Han autosomal dominant retinitis pigmentosa family
Authors: Zhang Yuwei, Lou Guiyu, Yang Ke, Yang Lin, Zhu Qing, Lei Bo DOI: 10.3760/cma.j.cn115989-20201217-00848 Published 2021-08-10 Cite asChin J Exp Ophthalmol, 2021, 39(8): 708-713. Abstract [View PDF] [Read Full Text] Objective To analyze the pathogenic genes and clinical phenotypes of a Chinese Han family […]
Genetic testing and clinical phenotypic analysis of familial vitreous amyloidosis in two Han Chinese families
Authors: Zheng Wei, Li Haibo, Zhang Xueyong, Zhou Xuezhi, Chen Yuanyuan, Mao Junfeng DOI: 10.3760/cma.j.cn115989-20190721-00318 Published 2021-08-10 Cite asChin J Exp Ophthalmol, 2021, 39(8): 714-718. Abstract [View PDF] [Read Full Text] Objective To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis […]
Clinical characteristics and genetic mutation analysis in a family with familial vitreous amyloidosis
Authors: Yu Qiang, Huang Xing, Yang Zhumin, Wang Xian DOI: 10.3760/cma.j.cn115989-20190923-00412 Published 2021-08-10 Cite asChin J Exp Ophthalmol, 2021, 39(8): 719-723. Abstract [View PDF] [Read Full Text] Objective To analyze the clinical characteristics and transthyretin (TTR) gene mutation of a family with familial vitreous amyloidosis […]