Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

PURPOSE: We describe the clinical features in two pedigrees with dominantly inherited retinopathy segregating the previously reported frameshifting mutation, c.836dupG (p.Ile280Asn*78) in the terminal exon of the RGR gene, and compare their haplotypes to that of the previously reported pedigree. MET...

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Detalles Bibliográficos
Autores principales: Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J., Raymond, F. Lucy, Bujakowska, Kinga M., Pierce, Eric A., Mahroo, Omar A., Mohamed, Moin D., Holder, Graham E., Hummel, Marybeth, Arno, Gavin, Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181194/
https://www.ncbi.nlm.nih.gov/pubmed/30347075
http://dx.doi.org/10.1167/iovs.18-25061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181194/
https://www.ncbi.nlm.nih.gov/pubmed/30347075
http://dx.doi.org/10.1167/iovs.18-25061

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