Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia

BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal ar...

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Detalles Bibliográficos
Autores principales: Toral, Marcus A., Velez, Gabriel, Boudreault, Katherine, Schaefer, Kellie A., Xu, Yu, Saffra, Norman, Bassuk, Alexander G., Tsang, Stephen H., Mahajan, Vinit B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441399/
https://www.ncbi.nlm.nih.gov/pubmed/28546991
http://dx.doi.org/10.1002/mgg3.266

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441399/
https://www.ncbi.nlm.nih.gov/pubmed/28546991
http://dx.doi.org/10.1002/mgg3.266

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