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The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

The diagnoses of retinitis pigmentosa (RP) and stationary night blindness (CSNB) are two distinct clinical entities belonging to a group of clinically and genetically heterogeneous retinal diseases. The current study focused on the identification of causative mutations in the RP-affected index patie...

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Publicado en:Sci Rep
Autores principales: Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Röger, Carsten, Hinz, Hebke, Jüschke, Christoph, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Da Costa, Romain, Neidhardt, John
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5095885/
https://ncbi.nlm.nih.gov/pubmed/27812022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep36208
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