title: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
authors.affiliation: Department of Medical Genetics, Akademisch Ziekenhuis, Vrije Universiteit Brussel, Belgium.
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: A
authors.initials: A
authors.lastname: Malfroot
authors.forename: I
authors.initials: I
authors.lastname: Dab
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D001483:Base Sequence; D001665:Binding Sites; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011392:Proline; D012694:Serine
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012694:Serine; D000255:Adenosine Triphosphate; D011392:Proline