טוען...
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...
שמור ב:
| הוצא לאור ב: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
The Association for Research in Vision and Ophthalmology
2015
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| נושאים: | |
| גישה מקוונת: | 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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