Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the h...

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Udgivet i:Sci Rep
Main Authors: Sengillo, Jesse D., Cabral, Thiago, Schuerch, Kaspar, Duong, Jimmy, Lee, Winston, Boudreault, Katherine, Xu, Yu, Justus, Sally, Sparrow, Janet R., Mahajan, Vinit B., Tsang, Stephen H.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593892/
https://ncbi.nlm.nih.gov/pubmed/28894305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11679-y
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