Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population

OBJECTIVE: To determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 of Superoxide Dismutase-1 gene in keratoconic patients from the State of São Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may...

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Detalles Bibliográficos
Autores principales: Lopes, Alessandro Garcia, de Almeida Júnior, Gildásio Castello, Teixeira, Ronan Marques, de Mattos, Luiz Carlos, Brandão de Mattos, Cinara Cássia, Castiglioni, Lilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346509/
https://www.ncbi.nlm.nih.gov/pubmed/32646478
http://dx.doi.org/10.1186/s13104-020-05166-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346509/
https://www.ncbi.nlm.nih.gov/pubmed/32646478
http://dx.doi.org/10.1186/s13104-020-05166-3

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