SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited du...

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Detalles Bibliográficos
Autores principales: Kuht, Helen J, Han, Jinu, Maconachie, Gail D E, Park, Sung Eun, Lee, Seung-Tae, McLean, Rebecca, Sheth, Viral, Hisaund, Michael, Dawar, Basu, Sylvius, Nicolas, Mahmood, Usman, Proudlock, Frank A, Gottlob, Irene, Lim, Hyun Taek, Thomas, Mervyn G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645707/
https://www.ncbi.nlm.nih.gov/pubmed/32744312
http://dx.doi.org/10.1093/hmg/ddaa166

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