A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Abstract excerpt

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.

Topics

• Alleles
• Base Sequence
• Codon
• Cystic Fibrosis
• DNA
• Exons
• Genotype
• Homozygote
• Humans
• Infant, Newborn
• Male
• Molecular Sequence Data
• Mutation