Publications by authors named "Guzel Ayupova"
Genes (Basel)
October 2024
Article Synopsis
- Cystic fibrosis (CF) is a common genetic disorder influenced by mutations in the CFTR gene, with its prevalence varying based on genetic diversity and ethnicity in different populations.
- A study using targeted next-generation sequencing identified 35 distinct mutations in CF patients from Bashkortostan, Russia, revealing that five mutations account for nearly 79% of cases.
- The findings underscore the need for tailored genetic screening strategies, considering regional and ethnic genetic variants to enhance the detection of CFTR mutations in patients.
