Associated Papers
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.
Chen S et al.
Investigative Ophthalmology & Visual Science, 2025
41025874 (PubMed )
Supplement: iovs-66-12-69_s006.xlsx › Sheet1
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.
Aneja A et al.
Genes, 2025
40869959 (PubMed )
Supplement: genes-16-00911-s001.zip › genes-3754796-supplementary.xlsx › Sheet2
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Weiner C et al.
Experimental Eye Research, 2020
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.
Kim US et al.
International Journal of Ophthalmology, 2016
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
Hu J et al.
Molecular Vision, 2011
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
Peng Y et al.
Molecular Vision, 2009
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
Fang S et al.
Molecular Vision, 2008
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
Liu JY et al.
Journal of Human Genetics, 2007
Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
Wang Y et al.
European Journal of Ophthalmology, 0
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