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IDENTIFICATION OF EXON 12 MUTATIONS IN THE CFTR GENE USING A COST-EFFECTIVE CAPILLARY ELECTROPHORESIS (CE) ASSAY

2025-07-13

Abstract excerpt

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CFTR gene. The F508del mutation in exon 11 of the CFTR gene is prevalent worldwide, affecting approximately 70% of CF patients, but it is less common in the local Pakistani population. Exon 12 mutations, such as S549N and S549R, have been observed in CF patients with Pakistani ancestry. This research provides accessible and...

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Literature Corpus work: be9fac42-46dc-5ec5-8707-9da4eb367ec2
DOI: 10.64013/bbasr.v2025i1.103

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