Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Mol Genet
Κύριοι συγγραφείς: Charng, Jason, Cideciyan, Artur V., Jacobson, Samuel G., Sumaroka, Alexander, Schwartz, Sharon B., Swider, Malgorzata, Roman, Alejandro J., Sheplock, Rebecca, Anand, Manisha, Peden, Marc C., Khanna, Hemant, Heon, Elise, Wright, Alan F., Swaroop, Anand
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2016
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6078602/
https://ncbi.nlm.nih.gov/pubmed/27798110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw361
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