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Candidate Genetic Modifiers for RPGR Retinal Degeneration

PURPOSE: To define genetic variants associated with variable severity of X-linked progressive retinal atrophy 1 (XLPRA1) caused by a five-nucleotide deletion in canine RPGR exon ORF15. METHODS: A genome-wide association study (GWAS) was performed in XLPRA1 phenotype informative pedigree. Whole genom...

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Detalles Bibliográficos
Autores principales:	Appelbaum, Tatyana, Murgiano, Leonardo, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7745631/ https://www.ncbi.nlm.nih.gov/pubmed/33326016 http://dx.doi.org/10.1167/iovs.61.14.20

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