Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (Collie Eye Anomaly mutation)

Collie Eye Anomaly (CEA) encompasses a spectrum of different ophthalmic phenotypes from clinically inconsequential choroidal hypoplasia to blindness from coloboma of the optic nerve head (ONH). A previous study found a 7.8kb deletion in intron 4 of the NHEJ1 gene to be associated with CEA. A genetic...

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Bibliographic Details
Published in:Vet Ophthalmol
Main Authors: Brown, Emily A., Thomasy, Sara M., Murphy, Christopher J., Bannasch, Danika L.
Format: Artigo
Language:Inglês
Published: 2017
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5766432/
https://ncbi.nlm.nih.gov/pubmed/28702949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/vop.12488
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