title: Gene symbol: CFTR. Disease: Cystic fibrosis.
authors.affiliation: Genetic Department, Fundación Jiménez Díaz, Spain. mjtrujillo@fjd.es
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: J
authors.initials: J
authors.lastname: Gallego
authors.forename: M
authors.initials: M
authors.lastname: García
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C505032:CFTR protein, human; D003062:Codon; D019005:Cystic Fibrosis Transmembrane Conductance Regulator