Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Röger, Carsten, Hinz, Hebke, Jüschke, Christoph, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Da Costa, Romain, Neidhardt, John
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!