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Article

Molecular studies of phenotype variation in canine RPGR-XLPRA1.

Molecular vision - 1 Jan 2016

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

Abstract excerpt

PURPOSE: Canine X-linked progressive retinal atrophy 1 (XLPRA1) caused by a mutation in retinitis pigmentosa (RP) GTPase regulator (RPGR) exon ORF15 showed significant variability in disease onset in a colony of dogs that all inherited the same mutant X chromosome. Defective protein trafficking has been detected in XLPRA1 before any discernible degeneration of the photoreceptors. We hypothesized that the severity...

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Source

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Identifiers

PMID: 27122963
PMCID: PMC4830396

Genes

GFAP
RPGR
CALB1
CRX
DDIT3
FGFR1
HSPA4
HSPA5
NTRK2
NTRK3
PVALB
RCVRN
RHO
RLBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Molecular studies of phenotype variation in canine RPGR-XLPRA1.PMID 27122963Read ↗

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