Mutant ELOVL4 That Causes Autosomal Dominant Stargardt-3 Macular Dystrophy Is Misrouted to Rod Outer Segment Disks

PURPOSE. Autosomal dominant Stargardt macular dystrophy caused by mutations in the Elongation of Very Long Chain fatty acids (ELOVL4) gene results in macular degeneration, leading to early childhood blindness. Transgenic mice and pigs expressing mutant ELOVL4 develop progressive photoreceptor degene...

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Huvudupphovsmän: Agbaga, Martin-Paul, Tam, Beatrice M., Wong, Jenny S., Yang, Lee Ling, Anderson, Robert E., Moritz, Orson L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Association for Research in Vision and Ophthalmology 2014
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4059079/
https://ncbi.nlm.nih.gov/pubmed/24833735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.13-13099
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