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Article

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

Investigative ophthalmology & visual science - 15 Aug 2012

Kuznetsova Tatyana, Iwabe Simone, Boesze-Battaglia Kathleen, Pearce-Kelling Sue, Chang-Min Yim, McDaid Kendra, Miyadera Keiko, Komaromy Andras, Aguirre Gustavo D

Abstract excerpt

PURPOSE: Canine cone-rod dystrophy 1 (cord1) has been previously mapped to CFA15, and a homozygous 44-bp insertion in exon 2 (Ins44) of canine RPGRIP1 (cRPGRIP1(Ins/Ins)) has been associated with the disease. However, from the recent identification of a significant discordance in genotype-phenotype association, we have reexamined the role of cRPGRIP1 in cord1. METHODS: Retinal structure and function was assessed...

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Source

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Identifiers

PMID: 22807295
DOI: 10.1167/iovs.12-10178
PMCID: PMC3422103

Genes

RPGRIP1
ERG
RPGR

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

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Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.PMID 22807295Read ↗

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