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Case Reports
. 1990 Nov;27(11):717-9.
doi: 10.1136/jmg.27.11.717.

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

H Cuppens  1 , P Marynen, C De Boeck, F De Baets, E Eggermont, H Van den Berghe, J J Cassiman
Affiliations
Case Reports

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

H Cuppens et al. J Med Genet. 1990 Nov.

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.

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Comment in

  • Cystic fibrosis in Bulgaria.
    Kalaydjieva L, Angelicheva D, Galeva I, Lalov V, Konstantinova D. Kalaydjieva L, et al. J Med Genet. 1991 Nov;28(11):807. doi: 10.1136/jmg.28.11.807. J Med Genet. 1991. PMID: 1770543 Free PMC article. No abstract available.

References

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    1. Science. 1989 Sep 8;245(4922):1073-80 - PubMed
    1. Nature. 1990 Apr 12;344(6267):665-7 - PubMed

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