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Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities
Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. Here we report a sixth OPN1SW mutation (T190I) and the associated color vision phenotype. S-o...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2012
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3516400/ https://ncbi.nlm.nih.gov/pubmed/23022137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2012.09.007 |
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