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Achromatopsia caused by novel missense mutations in the CNGA3 gene
AIM: To identify the genetic defects in a Chinese family with achromatopsia. METHODS: A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia since early infancy, was clinically evaluated. To further confirm and localize the causative mutations in this family, targeted region capture...
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| Publicado no: | Int J Ophthalmol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Journal of Ophthalmology Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4630996/ https://ncbi.nlm.nih.gov/pubmed/26558200 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2015.05.10 |
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