Frequency of F508del Variant in Patients with Cystic Fibrosis from Paraguay

Abstract Cystic fibrosis (CF) is an autosomal recessive disorder and is caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study the frequency of the F508del variant, the most common variant worldwide, in patients with CF from Paraguay. The frequen...

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Bibliographic Details
Main Authors: Celeste Vega, Dahiana Espínola, Marta Ascurra, Stefanía Fraenkel, Adriana Valenzuela, Lourdes Ortíz
Format: Article
Language:English
Published: SciELO 2023-03-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100401&tlng=en