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Article

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Human genetics - 1 Nov 2021

Kaukonen Maria, Pettinen Inka-Tuulevi, Wickström Kaisa, Arumilli Meharji, Donner Jonas, Juhola Ida-Julia, Holopainen Saila, Turunen Joni A, Yoshihara Masahito, Kere Juha, Lohi Hannes

Abstract excerpt

Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33606121
DOI: 10.1007/s00439-021-02266-3
PMCID: PMC8519925

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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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