RT Journal Article
SR Electronic
T1 A cystic fibrosis patient homozygous for the nonsense mutation R553X.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 715
OP 717
DO 10.1136/jmg.28.10.715
VO 28
IS 10
A1 J Bal
A1 M Stuhrmann
A1 M Schloesser
A1 J Schmidtke
A1 J Reiss
YR 1991
UL http://jmg.bmj.com/content/28/10/715.abstract
AB 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.