Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series

Background: The missense CFTR variant I1234V (c.3700A > G) produces class II protein-folding defects and is prevalent in the Middle East, yet clinical evidence for elexacaftor/tezacaftor/ivacaftor (ETI) in homozygous carriers is sparse. We prospectively evaluated ETI efficacy and safety in two pa...

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Main Authors: Mohammed Alzaid, Turki Alshahrani, Raed Alotaibi, Gawahir Mukhtar, Alanood Alanazi, Hammad Alsadoon, Safa Eltahir, Ahmed Aldraihem, Wadha Alotaibi
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Respiratory Medicine Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007125001005
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