Publication: Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse
Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse
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Schori, C., Agbaga, M.-P., Brush, R. S., Ayyagari, R., Grimm, C., & Samardzija, M. (2018). Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. PLoS ONE, 13(1), e0190514. https://doi.org/10.1371/journal.pone.0190514
Abstract
Abstract
Abstract
Mutations in the elongation of very long chain fatty acid 4 (ELOVL4) gene cause Stargardt macular dystrophy 3 (STGD3), a rare, juvenile-onset, autosomal dominant form of macular degeneration. Although several mouse models have already been generated to investigate the link between the three identified disease-causing mutations in the ELOVL4 gene, none of these models recapitulates the early-onset cone photoreceptor cell death observed in the macula of STGD3 patients. To address this specifically, we investigated the effect of mutant E
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Creators (Authors)
- Schori, Christian
- Agbaga, Martin-Paul
- Brush, Richard S
- Ayyagari, Radha
- Grimm, Christian
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Citations
Schori, C., Agbaga, M.-P., Brush, R. S., Ayyagari, R., Grimm, C., & Samardzija, M. (2018). Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. PLoS ONE, 13(1), e0190514. https://doi.org/10.1371/journal.pone.0190514
