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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese m...
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| Опубликовано в: : | J Ophthalmol |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Hindawi Publishing Corporation
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4444599/ https://ncbi.nlm.nih.gov/pubmed/26097748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/693468 |
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