A cystic fibrosis patient homozygous for the nonsense mutation R553X.
A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop codon in exon 11 of the CFTR gene, is moderately severely affected. Clinical and molecular findings are presented.
Bal
J
J
Institute of Human Genetics, Universität Göttingen, Germany.
Stuhrmann
M
M
Schloesser
M
M
Schmidtke
J
J
Reiss
J
J
D000483:Alleles; D001483:Base Sequence; D003062:Codon; D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D003062:Codon; D004247:DNA