4.6 Article

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

Journal

JOURNAL OF PEDIATRICS
Volume 199, Issue -, Pages 272-+

Publisher

MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2018.03.047

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Funding

  1. Programa de Aperfeicoamento Pessoal de Nivel Superior (CAPES)
  2. Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (FAPERGS) [1260-2551/13-0]

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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.

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