Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482

Abstract 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 (S...

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Main Authors: Liubov O. Skorodumova, Alexandra V. Belodedova, Elena I. Sharova, Elena S. Zakharova, Liliia N. Iulmetova, Mukharram M. Bikbov, Emin L. Usubov, Olga P. Antonova, Oksana V. Selezneva, Anastasia Levchenko, Olga Yu Fedorenko, Svetlana A. Ivanova, Raul R. Gainetdinov, Boris E. Malyugin
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Ophthalmology
Subjects:
Online Access:https://doi.org/10.1186/s12886-021-02128-6