title: The gene defect in cystic fibrosis and clinical applications of the knowledge.
authors.affiliation: Paediatric Genetics Unit, Royal Manchester Children's Hospital.
authors.forename: M
authors.initials: M
authors.lastname: Super
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator