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A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa
PURPOSE. Mutations in the same gene can lead to different clinical phenotypes. In this study, we aim to identify novel genotype–phenotype correlations and novel disease genes by analyzing an unsolved autosomal recessive retinitis pigmentosa (ARRP) Han Chinese family. METHODS. Whole exome sequencing...
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| Publicado en: | Invest Ophthalmol Vis Sci |
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| Autores principales: | , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
The Association for Research in Vision and Ophthalmology
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4290556/ https://ncbi.nlm.nih.gov/pubmed/25477324 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15382 |
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