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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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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
2014
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| Témata: | |
| On-line přístup: | 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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