CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India

Abstract excerpt

Background: mutations in people with CF, and highlight novel variants, selective phenotypic correlations, and regional variances within India. Methods: mutation analyses were done by Next-Generation Sequencing, and variants were categorized per American College of Medical Genetics guidelines and compared with validated Locus-specific databases. Demographic characteristics, mutation profile, novel mutations,...

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