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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-10-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	CFTR gene CFTR modulators Cystic fibrosis Next-generation sequencing Patient registry
Acesso em linha:	https://doi.org/10.1186/s13023-021-02049-z
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