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Identifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus
Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a comm...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3812648/ https://ncbi.nlm.nih.gov/pubmed/24169426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep03084 |
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