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Article

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.

Investigative ophthalmology & visual science - 15 May 2014

Agbaga Martin-Paul, Tam Beatrice M, Wong Jenny S, Yang Lee Ling, Anderson Robert E, Moritz Orson L

Abstract excerpt

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 degeneration. The mechanism by which these mutations cause macular degeneration remains unclear, but have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Macular Degeneration

Share to Membrane Proteins

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Source

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Identifiers

PMID: 24833735
DOI: 10.1167/iovs.13-13099
PMCID: PMC4059079

Genes

ELOVL4

Variants

Provenance

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Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.PMID 24833735Read ↗

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