Structural modeling of a novel SLC 38A8 mutation that causes foveal hypoplasia
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چکیده
منابع مشابه
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 architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for ...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2017
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.266