| Literature DB >> 29731357 |
Thaiane Rispoli1, Simone Martins de Castro2, Tarciana Grandi3, Mayara Prado1, Letícia Filippon4, Cláudia Maria Dornelles da Silva3, José Eduardo Vargas5, Lucia Maria Rosa Rossetti6.
Abstract
Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.Entities:
Keywords: CFTR gene mutations; SNaPshot; cystic fibrosis; genotyping; newborn screening
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Year: 2018 PMID： 29731357 DOI： 10.1016/j.jpeds.2018.03.047
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406