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Molecular Mechanisms of Disease for Mutations at Gly-90 in Rhodopsin

Two different mutations at Gly-90 in the second transmembrane helix of the photoreceptor protein rhodopsin have been proposed to lead to different phenotypes. G90D has been classically associated with congenital night blindness, whereas the newly reported G90V substitution was linked to a retinitis...

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Autores principales: Toledo, Darwin, Ramon, Eva, Aguilà, Mònica, Cordomí, Arnau, Pérez, Juan J., Mendes, Hugo F., Cheetham, Michael E., Garriga, Pere
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3220564/
https://ncbi.nlm.nih.gov/pubmed/21940625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.201517
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