Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation - Mondejar-Lopez, Pedro; Zolin, Anna; Garcia-Marcos, Patricia W.; Pastor-Vivero, Mª Dolores; Rosa-Silvestre, Maria; de Asis Sanchez-Martinez, Francisco; Salvatore, Donatello; Cimino, Giuseppe; Majo, Fabio; Sole-Jover, Amparo; Asensio de la Cruz, Oscar; Calderazzo, Maria Adelaide; et al. (Respiratory medicine, 2022)
Keywords: A1006E; Adult; Cystic fibrosis; Cystic Fibrosis - diagnosis; Cystic Fibrosis - epidemiology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Female; Genotype; Homozygote; Humans; Male; Missense mutation; Mutation - genetics; Phenotype; ECFSPR; Phenotype; CF; Missense mutation; Cystic fibrosis; Genotype; FEV1; A1006E; pwCF; CFTR; BMI