PT  - JOURNAL ARTICLE
AU  - J Bal
AU  - M Stuhrmann
AU  - M Schloesser
AU  - J Schmidtke
AU  - J Reiss
TI  - A cystic fibrosis patient homozygous for the nonsense mutation R553X.
AID  - 10.1136/jmg.28.10.715
DP  - 1991 Oct 01
TA  - Journal of Medical Genetics
PG  - 715--717
VI  - 28
IP  - 10
4099  - http://jmg.bmj.com/content/28/10/715.short
4100  - http://jmg.bmj.com/content/28/10/715.full
SO  - J Med Genet1991 Oct 01; 28
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.