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Article

Candidate Genetic Modifiers for RPGR Retinal Degeneration.

Investigative ophthalmology & visual science - 1 Dec 2020

Appelbaum Tatyana, Murgiano Leonardo, Becker Doreen, Santana Evelyn, Aguirre Gustavo D

Abstract excerpt

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 genome sequencing (WGS) was used for mutational analysis of genes within the candidate genomic region. Retinas of normal...

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Identifiers

PMID: 33326016
DOI: 10.1167/iovs.61.14.20
PMCID: PMC7745631

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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