Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Osama A Karim MajedFatema Osama MajedNabeel Jasim AlmoamenHusain Baqer AlsatrawiSalma Dawood ShehabiJana HrbkováMalgorzata LibikMilan MacekPublished in: Molecular genetics and genomics : MGG (2024)
The most commonCF-causing mutations in Bahraini pwCF were identified, enabling more precise diagnosis, introduction of two-tier neonatal screening and fostering administration of CFTRm.