title: Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT.
authors.affiliation: Department of Paediatrics, University Hospital, Lund, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Schaedel
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: R
authors.initials: R
authors.lastname: Kornfält
authors.forename: L
authors.initials: L
authors.lastname: Holmberg
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator