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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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
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General Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7645707/
https://ncbi.nlm.nih.gov/pubmed/32744312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa166
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