Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications

Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications

Abstract Background The high variety of mutations found in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene is responsible for the clinical heterogeneity observed in people with Cystic Fibrosis (CF) and the atypical manifestations in CFTR-related disorders (CFTR-RD). The intronic c.489+3A>...

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Main Authors: Panayiotis K. Yiallouros, Pinelopi Anagnostopoulou, Panayiotis Kouis, Andreas Μ. Matthaiou, Tonia Adamidi, Phivos Ioannou, George Christopoulos, Constantina Costi, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CFTR gene
c.489+3A>G variant
p.Cys1400Ter
Co-segregation
Cystic fibrosis
CFTR-related disorder
Online Access:https://doi.org/10.1186/s13023-025-03714-3
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https://doi.org/10.1186/s13023-025-03714-3

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