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Research Article
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
  1. M Chillón,
  2. T Casals,
  3. J Giménez,
  4. V Nunes,
  5. X Estivill
  1. Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.

    Abstract

    We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.

    https://doi.org/10.1136/jmg.31.5.369

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