Articles with "slc38a8 mutation" as a keyword



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Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia

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Published in 2017 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.266

Abstract: 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… read more here.

Keywords: modeling novel; novel slc38a8; structural modeling; foveal hypoplasia ... See more keywords