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

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...

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Detalles Bibliográficos
Autores principales: Young, Alejandra, Dandekar, Uma, Pan, Calvin, Sader, Avery, Zheng, Jie J., Lewis, Richard A., Farber, Debora B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015898/
https://www.ncbi.nlm.nih.gov/pubmed/27607449
http://dx.doi.org/10.1371/journal.pone.0162273