A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: Description and clinical data

Miguel Chillón, Teresa Casals, Javier Giménez, Virginia Nunes, Xavier P. Estivill

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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 ΔF508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.

Original languageEnglish
Pages (from-to)369-370
Number of pages2
JournalJournal of Medical Genetics
Volume31
Issue number5
Publication statusPublished - May 1994
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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