A cystic fibrosis patient homozygous for the nonsense mutation R553X.
Journal of Medical GeneticsPublished 1 October 1991Open access
Jerzy Bal, Manfred Stuhrmann, M. Schloesser, J. Schmidtke, Jochen Reiss
Citations24
SJR quartileQ1
SJR score1.62
SNIP1.40
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TL;DR
A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing, and this patient, the only one described to date, is moderately severely affected.
Abstract
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.
Keywords
Medicine
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