Article
Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.
BMC ophthalmology - 8 Oct 2021
Skorodumova Liubov O, Belodedova Alexandra V, Sharova Elena I, Zakharova Elena S, Iulmetova Liliia N, Bikbov Mukharram M, Usubov Emin L, Antonova Olga P, Selezneva Oksana V, Levchenko Anastasia, Fedorenko Olga Yu, Ivanova Svetlana A, Gainetdinov Raul R, Malyugin Boris E
Abstract excerpt
BACKGROUND: Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether...
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