EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied cli...

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Pubblicato in:Genes (Basel)
Autori principali: McGuigan, David B., Heon, Elise, Cideciyan, Artur V., Ratnapriya, Rinki, Lu, Monica, Sumaroka, Alexander, Roman, Alejandro J., Batmanabane, Vaishnavi, Garafalo, Alexandra V., Stone, Edwin M., Swaroop, Anand, Jacobson, Samuel G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5541311/
https://ncbi.nlm.nih.gov/pubmed/28704921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8070178
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