Article
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
Journal of cellular and molecular medicine - 1 Dec 2022
de Melo Ana Cristina Vieira, de Souza Karla Simone Costa, da Silva Heglayne Pereira Vital, Maia Jussara Melo de Cerqueira, Dantas Vera Maria, Bezerra João Felipe, de Rezende Adriana Augusto
Abstract excerpt
This short report documented cystic fibrosis transmembrane conductance regulator (CFTR) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high-throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis in 31 patients (83.8%). Among them, 25 patients' carriers of the c.1521_1523delCTT variant, categorized as a class 2...
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