title: Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: S
authors.initials: S
authors.lastname: Desmyttere
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: I
authors.initials: I
authors.lastname: Dab
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: M P
authors.initials: MP
authors.lastname: Audrezet
authors.forename: C
authors.initials: C
authors.lastname: Ferec
mesh_terms: D000293:Adolescent; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016368:Frameshift Mutation; D005809:Genes, Regulator / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000209:etiology* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010182:Pancreatic Diseases / Q000209:etiology* / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator