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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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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5441399/ https://ncbi.nlm.nih.gov/pubmed/28546991 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.266 |
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