Article
Genotype-phenotype correlation of CFTR variants in cystic fibrosis patients.
Respiratory medicine - 1 Jan 2026
Canitez Yakup, Ozemri Sag Sebnem, Nalbant Nurdeniz, Alemdar Adem, Hayme Serhat, Korkmaz Merve, Demirdogen Ezgi, Celebi Solmaz, Hacimustafaoglu Mustafa Kemal, Ozgur Taner, Ozkan Tanju Munevver, Sapan Nihat, Temel Sehime Gulsun
Abstract excerpt
INTRODUCTION: Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder caused by mutations in the CFTR gene. In Turkiye, high genetic diversity and consanguinity contribute to a heterogeneous CFTR variant spectrum; however, genotype-phenotype data remain limited. METHODS: This retrospective study analyzed 92 Turkish CF patients (36 homozygous, 56 compound heterozygous) to characterize CFTR variant...
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