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.
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| Title: | 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. |
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| Authors: | Yiallouros PK; Respiratory Physiology Laboratory, Medical School, Shacolas Educational Centre for Clinical Medicine, University of Cyprus, 215/6 Palaios Dromos Lefkosias Lemesou, 2029, Aglantzia, Nicosia, Cyprus. yiallouros.panayiotis@ucy.ac.cy.; Paediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus. yiallouros.panayiotis@ucy.ac.cy., Matthaiou AΜ; Respiratory Physiology Laboratory, Medical School, Shacolas Educational Centre for Clinical Medicine, University of Cyprus, 215/6 Palaios Dromos Lefkosias Lemesou, 2029, Aglantzia, Nicosia, Cyprus., Anagnostopoulou P; Respiratory Physiology Laboratory, Medical School, Shacolas Educational Centre for Clinical Medicine, University of Cyprus, 215/6 Palaios Dromos Lefkosias Lemesou, 2029, Aglantzia, Nicosia, Cyprus.; Paediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus., Kouis P; Respiratory Physiology Laboratory, Medical School, Shacolas Educational Centre for Clinical Medicine, University of Cyprus, 215/6 Palaios Dromos Lefkosias Lemesou, 2029, Aglantzia, Nicosia, Cyprus., Libik M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Motol University Hospital, Charles University, Prague, Czechia., Adamidi T; Pulmonology Clinic, Nicosia General Hospital, Nicosia, Cyprus., Eleftheriou A; Pulmonology Clinic, Paphos General Hospital, Paphos, Cyprus., Demetriou A; Private Practice, Nicosia, Cyprus., Ioannou P; Paediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus., Tanteles GA; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Costi C; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Fanis P; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Motol University Hospital, Charles University, Prague, Czechia., Neocleous V; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Phylactou LA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 02; Vol. 16 (1), pp. 409. Date of Electronic Publication: 2021 Oct 02. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-021-02049-z |
