Article
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Molecular diagnosis & therapy - 1 Jun 2020
Rispoli Thaiane, Rodrigues Grazielle M, de Castro Simone M, Prado Mayara J, da Silva Cláudia M D, Grandi Tarciana, Fischer Gilberto B, Pinto Leonardo A, Maróstica Paulo J C, Scortegagna Laís C R, Mocelin Helena T, Vargas José Eduardo, Rossetti Maria L R
Abstract excerpt
INTRODUCTION: The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false- positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high...
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