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Research Article
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
  1. M Schloesser,
  2. S Arleth,
  3. U Lenz,
  4. R M Bertele,
  5. J Reiss
  1. Institut für Humangenetik, Universität Göttingen, Germany.

    Abstract

    A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.

    https://doi.org/10.1136/jmg.28.12.878

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