Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications
在塞浦路斯,c.489+3A>G 变异与致病性 CFTR 突变 p.Cys1400Ter 共分离:患病率和临床意义
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03714-3
Yiallouros, Panayiotis K; Anagnostopoulou, Pinelopi; Kouis, Panayiotis; Matthaiou, Andreas Μ; Adamidi, Tonia; Ioannou, Phivos; Christopoulos, George; Costi, Constantina; Phylactou, Leonidas A; Fanis, Pavlos; Neocleous, Vassos