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After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13104-020-05166-3","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T07:38:21Z","timestamp":1594280301000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population"],"prefix":"10.1186","volume":"13","author":[{"given":"Alessandro Garcia","family":"Lopes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gild\u00e1sio Castello","family":"de Almeida J\u00fanior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronan Marques","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz Carlos","family":"de Mattos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4836-3113","authenticated-orcid":false,"given":"Cinara C\u00e1ssia","family":"Brand\u00e3o de Mattos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Castiglioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,7,9]]},"reference":[{"key":"5166_CR1","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.survophthal.2017.06.009","volume":"62","author":"V Mas Tur","year":"2017","unstructured":"Mas Tur V, MacGregor C, Jayaswal R, O\u2019Brart D, Maycock N. 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