Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form ofCFTR dysfunction
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
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1. CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor;JCI Insight;2022-03-22
2. Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening;Molecular Genetics & Genomic Medicine;2017-02-19
3. A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction;American Journal of Physiology-Lung Cellular and Molecular Physiology;2016-12-01
4. Mutación S1455X del CFTR y colonización de vías aéreas altas por Pseudomonas aeruginosa;Archivos de Bronconeumología;2014-11
5. S1455X CFTR Mutation and Upper Airway Colonization With Pseudomonas aeruginosa;Archivos de Bronconeumología (English Edition);2014-11
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