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OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

Leber congenital amaurosis (LCA) encompasses a set of early-onset blinding diseases that are characterized by vision loss, involuntary eye movement, and nonrecordable electroretinogram (ERG). At least 19 genes are associated with LCA, which is typically recessive; however, mutations in homeodomain t...

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Detalhes bibliográficos
Main Authors: Roger, Jerome E., Hiriyanna, Avinash, Gotoh, Norimoto, Hao, Hong, Cheng, Debbie F., Ratnapriya, Rinki, Kautzmann, Marie-Audrey I., Chang, Bo, Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3904630/
https://ncbi.nlm.nih.gov/pubmed/24382353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI72722
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