Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

Giuseppe Novelli, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Federica Sangiuolo, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 by specific deletion (ΔF508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.

Original languageEnglish
Pages (from-to)420-421
Number of pages2
JournalHuman Genetics
Issue number4
Publication statusPublished - Sep 1990

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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