title: Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
authors.forename: A L
authors.initials: AL
authors.lastname: Beaudet
authors.forename: R G
authors.initials: RG
authors.lastname: Perciaccante
authors.forename: G R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D010641:Phenotype