title: A novel mutation (G1249R) in exon 20 of the CFTR gene.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: D J
authors.initials: DJ
authors.lastname: Dijkstra
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator