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
Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants.
Huang L et al.
Indian Journal of Ophthalmology, 2024
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.
Schiaffino MV et al.
Pigment Cell Research, 2005
Mutational analysis of the OA1 gene in ocular albinism.
Camand O et al.
Ophthalmic Genetics, 2003
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS
Human Mutation, 2002
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M et al.
Genetic Testing, 2002
Ocular albinism type 1: more than meets the eye.
Shen B et al.
Pigment Cell Research, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Bassi MT et al.
Human Genetics, 2001
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
d'Addio M et al.
Human Molecular Genetics, 2000
OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE et al.
American Journal of Human Genetics, 1998
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
Schiaffino MV et al.
Human Molecular Genetics, 1995
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