Article
Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome.
Journal of glaucoma - 1 Jan 2000
Wiggs Janey L, Pasquale Louis R
Abstract excerpt
Variants in LOXL1 are significantly associated with exfoliation syndrome (XFS), however the impact of the associated variants on disease development is not yet understood. Initially the associated missense changes, R141L and G153D, were considered to be pathogenic alleles. Flipping of the risk allele in certain populations for both missense variants provided strong evidence that these missense changes are not...
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