title: Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: N
authors.initials: N
authors.lastname: Fonknechten
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
mesh_terms: D002446:Celiac Disease / Q000209:etiology; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000209:etiology; D008168:Lung / Q000382:microbiology / Q000502:physiology; D008297:Male; D008470:Meconium; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator