Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.

Hassan Rafique Anum Safdar Muhammad Usman GhaniAli AkbarFarheena Iqbal AwanZartashay NaeemAli AmarMudassar Fareed AwanSyed Wajahat UllahRehan Sadiq Shaikh

Published in: The Journal of asthma : official journal of the Association for the Care of Asthma (2023)

gene variants is highly recommended for CF disease genetic testing in South Asia which may aid in achieving a precise diagnosis, enhancing disease management, and discovering drugs for currently untreatable genetic variants. It is also imperative to conduct a comprehensive study in this region, especially in previously unexplored countries such as Nepal, Bhutan, Maldives, and Bangladesh.

Keyphrases

cystic fibrosis
pseudomonas aeruginosa
copy number
genome wide
gene expression
tertiary care
chronic obstructive pulmonary disease
dna methylation
transcription factor
drug induced