Article
MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye.
Pediatric pulmonology - 1 Mar 2026
Eryılmaz Polat Sanem, Yıldırım Çelebi, Yetişgin Hande, Aktemur Ünlü Ayyüce, Akça Dinç Gamze, Kürtül Çakar Meltem, Bilgiç Işıl, Özkan Tabakçı Satı, Akyan Soydaş Şule Selin, Uytun Salih, Gençoğlu Murat Yasin, Ademhan Tural Dilber, Tuğcu Gökçen Dilşa, Çavdarlı Büşranur, Ceylan Ahmet Cevdet, Cinel Güzin
Abstract excerpt
INTRODUCTION: Cystic fibrosis (CF) is an autosomal recessive disorder caused by variants in the CFTR gene and shows marked genetic heterogeneity in diverse populations. Although next-generation sequencing (NGS) has significantly improved CFTR variant detection, it may fail to identify large exon deletions or duplications, leaving the CFTR genotype incomplete in some patients. This study evaluated the diagnostic...
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