Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
Beaudet
A L
AL
Perciaccante
R G
RG
Cutting
G R
GR
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