Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
Open Access
- 1 August 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (8) , 597
- https://doi.org/10.1136/jmg.29.8.597
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Mutation analysis of 184 cystic fibrosis families in Wales.Journal of Medical Genetics, 1992
- A cystic fibrosis patient homozygous for the nonsense mutation R553X.Journal of Medical Genetics, 1991
- Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF geneThe Lancet, 1991
- Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary DiseaseNew England Journal of Medicine, 1990
- A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephewJournal of Medical Genetics, 1990