title: A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: A
authors.initials: A
authors.lastname: Bonizzato
authors.forename: A
authors.initials: A
authors.lastname: Gaona
authors.forename: M
authors.initials: M
authors.lastname: Dognini
authors.forename: M
authors.initials: M
authors.lastname: Chillón
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016368:Frameshift Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013030:Spain
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator