title: G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics, Sofia, Bulgaria.
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: A
authors.initials: A
authors.lastname: Jordanova
authors.forename: D
authors.initials: D
authors.lastname: Gavrilov
authors.forename: D
authors.initials: D
authors.lastname: Angelicheva
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA