Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology.

doi:10.1167/iovs.61.14.2

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Article

Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology.

Investigative ophthalmology & visual science - 1 Dec 2020

Biasella Fabiola, Plössl Karolina, Karl Claudia, Weber Bernhard H F, Friedrich Ulrike

Abstract excerpt

Purpose: Vitronectin, a cell adhesion and spreading factor, is suspected to play a role in the pathogenesis of age-related macular degeneration (AMD), as it is a major component of AMD-specific extracellular deposits (e.g., soft drusen, subretinal drusenoid deposits). The present study addressed the impact of AMD-associated non-synonymous variant rs704 in the vitronectin-encoding gene VTN on vitronectin...

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PMID: 33259607
DOI: 10.1167/iovs.61.14.2
PMCID: PMC7718807

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