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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095885/
https://www.ncbi.nlm.nih.gov/pubmed/27812022
http://dx.doi.org/10.1038/srep36208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095885/
https://www.ncbi.nlm.nih.gov/pubmed/27812022
http://dx.doi.org/10.1038/srep36208

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