Article
Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.
Pediatric pulmonology - 1 Dec 2024
Yıldız Ceren Ayça, Selçuk Balcı Merve, Karabulut Şeyda, Başer Zeynep Münteha, Yüksel Kalyoncu Mine, Metin Çakar Neval, Akkitap Yiğit Müge Merve, Baysal Eda Esra, Özdemircioğlu Fulya, Uzunoğlu Burcu, Taştan Gamze, Ergenekon Pınar, Gökdemir Yasemin, Erdem Eralp Ela, Karakoç Fazilet, Ata Pınar, Karadağ Bülent
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by variants of CFTR gene. Over 2000 variants have been identified, and new drugs called CFTR modulators have been developed to target specific defects in the CFTR protein. However, these drugs are only suitable for patients with certain variants of CFTR, and eligibility rates vary depending on race and geographical region. This study aimed...
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