TY - JOUR AU - Lopes, Alessandro Garcia AU - de Almeida Júnior, Gildásio Castello AU - Teixeira, Ronan Marques AU - de Mattos, Luiz Carlos AU - Brandão de Mattos, Cinara Cássia AU - Castiglioni, Lilian PY - 2020 DA - 2020/07/09 TI - Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population JO - BMC Research Notes SP - 328 VL - 13 IS - 1 AB - 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 damage the corneal structure. SN - 1756-0500 UR - https://doi.org/10.1186/s13104-020-05166-3 DO - 10.1186/s13104-020-05166-3 ID - Lopes2020 ER -