Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients

Laura Cremonesi, Luca Ruocco, Manuela Seia, Silvia Russo, Annamaria Giunta, Patrizia Ronchetto, Laura Fenu, Luca Romano, Marcella Devoto, Giovanni Romeo, Maurizio Ferrari

Research output: Contribution to journalArticle

Abstract

A sample of 175 Italian cystic fibrosis patients has been analysed for the presence of the ΔF508 mutation. The frequency of this mutation among 137 patients with pancreatic insufficiency is equal to 57%; in 23 patients with pancreatic sufficiency it is 26%. A high proportion of the unknown mutations is associated with the same rare haplotype found in association with ΔF508, suggesting that at least another mutation occurred on a chromosome characterized by the same haplotype.

Original languageEnglish
Pages (from-to)400-402
Number of pages3
JournalHuman Genetics
Volume85
Issue number4
DOIs
Publication statusPublished - Sep 1990

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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