title: Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
authors: Gabriele
authors: G
authors: Capurso
authors: Andrea
authors: A
authors: Sbrozzi-Vanni
authors: Maria
authors: M
authors: Piane
authors: Paola
authors: P
authors: Begini
authors: Francesco
authors: F
authors: Panzuto
authors: Fabio
authors: F
authors: Libi
authors: Giovanna
authors: G
authors: Margagnoni
authors: Carlo
authors: C
authors: Capotondi
authors: Massimo
authors: M
authors: Marignani
authors: Luciana
authors: L
authors: Chessa
authors: Gianfranco
authors: G
authors: Delle Fave
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005192:Family Health; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator