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BIBTEX RIS

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System

2018; Elsevier BV; Volume: 199; Linguagem: Inglês

10.1016/j.jpeds.2018.03.047

1097-6833

Thaiane Rispoli, Simone Martins de Castro, Tarciana Grandi, Mayara Jorgens Prado, Letícia Filippon, Cláudia Maria Dornelles da Silva, José Eduardo Vargas, Lucia Maria Rosa Rossetti,

Infant Nutrition and Health

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.