Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador
Openalex
Resumen
To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF's patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A > C and the c.206359C > A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.
Cómo citar
Yazmina Lascano-Vaca, & Esteban Ortiz‐Prado, & Lenin Gómez‐Barreno, & Katherine Simbaña‐Rivera, & Jorge Vásconez-González, & Alexander Lister, & María Emilia Arteaga-Espinosa, & Geovanny F. Pérez (2020). Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador. https://doi.org/10.1186/s12887-020-2013-6