Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense GUCA1...

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Vydáno v:Genes (Basel)
Hlavní autoři: Morales-Cámara, Samuel, Alexandre-Moreno, Susana, Bonet-Fernández, Juan-Manuel, Atienzar-Aroca, Raquel, Aroca-Aguilar, José-Daniel, Ferre-Fernández, Jesús-José, Méndez, Carmen-Dora, Morales, Laura, Fernández-Sánchez, Laura, Cuenca, Nicolas, Coca-Prados, Miguel, Martínez-de-la-Casa, José-María, Garcia-Feijoo, Julián, Escribano, Julio
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288452/
https://ncbi.nlm.nih.gov/pubmed/32422965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11050550
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