A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
case_report · Level V
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- Record sourced from PubMed, PMID 1757966.
- Also identified by PMC identifier 1017168.
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Abstract
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
Medical subject headings
- Cystic Fibrosis
- Mutation