| Abstrakt: |
A recent study conducted at the Christian Medical College in Tamil Nadu, India, aimed to identify mutations and correlations in people with cystic fibrosis (CF) in south India. The study found 55 CFTR variants, including six novel variants, among 120 people with CF. The most common mutation was F508del, but its allele frequency was lower than in European populations. The study also identified regional variances in genotype frequency and clinical phenotype. These findings contribute to the understanding of CF in India and highlight the need for improved access to treatment. [Extracted from the article] |
