GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Abstract

Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain's optic chiasm. We demonstrated previously that Oa1… (More)
DOI: 10.1371/journal.pone.0162273

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