title: Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
authors.forename: N
authors.initials: N
authors.lastname: Derichs
authors.forename: A
authors.initials: A
authors.lastname: Schuster
authors.forename: I
authors.initials: I
authors.lastname: Grund
authors.forename: A
authors.initials: A
authors.lastname: Ernsting
authors.forename: C
authors.initials: C
authors.lastname: Stolpe
authors.forename: S
authors.initials: S
authors.lastname: Körtge-Jung
authors.forename: S
authors.initials: S
authors.lastname: Gallati
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: P
authors.initials: P
authors.lastname: Kozlowski
authors.forename: M
authors.initials: M
authors.lastname: Ballmann
mesh_terms: D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator