Case Reports
doi: 10.1136/jmg.28.10.715.
A cystic fibrosis patient homozygous for the nonsense mutation R553X
Affiliations
- PMID: 1682496
- PMCID: PMC1017062
- DOI: 10.1136/jmg.28.10.715
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Case Reports
A cystic fibrosis patient homozygous for the nonsense mutation R553X
J Med Genet.
1991 Oct.
Abstract
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.
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