Article
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Molecular genetics and genomics : MGG - 14 May 2024
Majed Osama A Karim, Majed Fatema Osama, Almoamen Nabeel Jasim, Alsatrawi Husain Baqer, Shehabi Salma Dawood, Hrbková Jana, Libik Malgorzata, Macek Milan
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a rare multi-systemic recessive disorder. The spectrum and the frequencies of CFTR mutations causing CF vary amongst different populations in Europe and the Middle East. In this study, we characterised the distribution of CF-causing mutations (i.e. pathogenic variants in the CFTR gene) in a representative CF cohort from the Kingdom of Bahrain based on a three-decade-long...
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