Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Abstract Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the systematic recording of patients’ data. In this study, we aim to present...

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Bibliographic Details
Main Authors: Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous, Leonidas A. Phylactou
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CFTR gene
CFTR modulators
Cystic fibrosis
Next-generation sequencing
Patient registry
Online Access:https://doi.org/10.1186/s13023-021-02049-z

Internet

https://doi.org/10.1186/s13023-021-02049-z

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