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_s005.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
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
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
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
Hu J et al.
Molecular Vision, 2011
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms.
Kondo H et al.
Japanese Journal of Ophthalmology, 2010
Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia.
Ozeki Y et al.
Japanese Journal of Ophthalmology, 2010
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
Ohtsubo M et al.
Japanese Journal of Ophthalmology, 2010
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
Ohtsubo M et al.
Japanese Journal of Ophthalmology, 2010
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
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