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Article

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease

19 Mar 2019

Abstract excerpt

Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials in humans. To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome...

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PMID: 30889179
DOI: 10.1371/journal.pgen.1007873

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