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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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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Chen, Xi-Teng, Huang, Hui, Chen, Yan-Hua, Dong, Li-Jie, Li, Xiao-Rong, Zhang, Xiao-Min
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2015
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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