AI Article Synopsis
- Cystic fibrosis newborn screening was introduced in Brazil's Public Health System in 2012, but initially tested only one mutation due to cost.
- The single mutation tested was p.Phe508del, which is one of the most common mutations associated with cystic fibrosis.
- Researchers created a low-cost genetic test that can screen for 11 different CFTR gene mutations, making it suitable for use in developing countries.
Article 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.
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| http://dx.doi.org/10.1016/j.jpeds.2018.03.047 | DOI Listing |
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