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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Toledo, Darwin, Ramon, Eva, Aguilà, Mònica, Cordomí, Arnau, Pérez, Juan J., Mendes, Hugo F., Cheetham, Michael E., Garriga, Pere
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2011
Schlagworte:
Online Zugang: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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