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
GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
Xu J et al.
Molecular Vision, 2023
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Mayeur H et al.
Bmc Medical Genetics, 2006
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
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS
Human Mutation, 2002
Ocular albinism type 1: more than meets the eye.
Shen B et al.
Pigment Cell Research, 2001
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.
Shen B et al.
Traffic (copenhagen, Denmark), 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
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE et al.
American Journal of Human Genetics, 1998
Select a paper to view details