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A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew
  1. H Cuppens1,
  2. P Marynen1,
  3. H Van den Berghe1,
  4. J J Cassiman1,
  5. C De Boeck2,
  6. E Eggermont2,
  7. F De Baets3
  1. Centre for Human Genetics, University of Leuven, Campus Gasthuisberg O & N, Herestraat 49, B-3000 Leuven, Belgium.
  2. Department of Pediatrics, UZ Gasthuisberg, Leuven, Belgium.
  3. Kliniek voor Kinderziekten `C Hooft', University Hospital, Gent, Belgium.

    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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