The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation. Ultrastructural examination of skin melanocytes and of the retinal pigment epithelium reveals the presence of macromelanosomes, suggesting a defect in...
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| Veröffentlicht in: | Proc Natl Acad Sci U S A |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
1996
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC38594/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8799153/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.93.17.9055 |
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