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Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa
EYS mutations demonstrate great genotypic and phenotypic varieties, and are one of the major causes for patients with autosomal recessive retinitis pigmentosa (ARRP). Here, we aim to determine the genetic lesions with phenotypic correlations in two Chinese families with ARRP. Medical histories and o...
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| 發表在: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4354143/ https://ncbi.nlm.nih.gov/pubmed/25753737 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep08927 |
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