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

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) ass...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8501560/
https://www.ncbi.nlm.nih.gov/pubmed/34625056
http://dx.doi.org/10.1186/s12886-021-02128-6