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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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| Publicado no: | Cell Signal |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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