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Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone function. However, a small number of patients carrying the CNGB3/c.1208G>A;p.R40...
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| Pubblicato in: | J Clin Invest |
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| Autori principali: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Clinical Investigation
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6264655/ https://ncbi.nlm.nih.gov/pubmed/30418171 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI96098 |
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