Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
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[1] J. Cheadle,et al. Mutation analysis of 184 cystic fibrosis families in Wales. , 1992, Journal of medical genetics.
[2] J. Reiss,et al. A cystic fibrosis patient homozygous for the nonsense mutation R553X. , 1991, Journal of medical genetics.
[3] W. Lissens,et al. Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene , 1991, The Lancet.
[4] L. Tsui,et al. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. , 1990, The New England journal of medicine.
[5] P. Marynen,et al. A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew , 1990, Journal of medical genetics.