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Mechanisms of Mutant PDE6 Proteins Underlying Retinal Diseases
Mutations in PDE6 genes encoding the effector enzymes in rods and cones underlie severe retinal diseases including retinitis pigmentosa (RP), autosomal dominant congenital stationary night blindness (adCSNB), and achromatopsia (ACHM). Here we examined a spectrum of pathogenic missense mutations in P...
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| Pubblicato in: | Cell Signal |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5554458/ https://ncbi.nlm.nih.gov/pubmed/28583373 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cellsig.2017.06.002 |
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