A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. Issue 11 (November 1990)

• Record Type: Journal Article
• Authors: Cuppens, H; Marynen, P; Berghe, H Van den; Cassiman, J J; Boeck, C De; Eggermont, E; Baets, F De
• Is Part Of: Journal of medical genetics. Volume 27:Issue 11(1990)
• Page Start: 717
• Page End: 719
• Publication Date: 1990-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.11.717
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.