A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.
Cuppens
H
H
Centre for Human Genetics, University of Leuven, Belgium.
Marynen
P
P
De Boeck
C
C
De Baets
F
F
Eggermont
E
E
Van den Berghe
H
H
Cassiman
J J
JJ
D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
D003062:Codon