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Frequency of Cystic Fibrosis Mutations Among Italian Patients

  • Patrizia Ronchetto
  • Laura Fenu
  • Aldamaria Puliti
  • Marcella Devoto
  • Luca Romano
  • Giovanni Romeo
  • Laura Cremonesi
  • Paola Carrera
  • Luca Ruocco
  • Manuela Seia
  • Silvia Russo
  • Annamaria Giunta
  • Maurizio Ferrari
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)

Abstract

The gene responsible for cystic fibrosis (CF) has been recently cloned (Rommens et al., 1989; Riordan et al., 1989; Kerem et al., 1989) and the most common mutation causing CF (deltaF508) has been identified as a three base pair deletion at codon 508 of exon 10 removing a phenylalanine. Since then other mutations have been identified in different exons, and the information necessary for their detection has been distributed through the CF Genetic Analysis Consortium (L.-C. Tsui, personal communications).

Keywords

Cystic Fibrosis CFTR Gene Cystic Fibrosis Gene Meconium Ileus Cystic FibroSIS 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • Patrizia Ronchetto
    • 1
  • Laura Fenu
    • 1
  • Aldamaria Puliti
    • 1
  • Marcella Devoto
    • 1
  • Luca Romano
    • 2
  • Giovanni Romeo
    • 1
    • 2
  • Laura Cremonesi
    • 3
  • Paola Carrera
    • 3
  • Luca Ruocco
    • 3
  • Manuela Seia
    • 4
  • Silvia Russo
    • 4
  • Annamaria Giunta
    • 5
  • Maurizio Ferrari
    • 3
  1. 1.Laboratorio di Genetica MolecolareIstituto Giannina GasliniGenoaItaly
  2. 2.Clinica Pediatrica IUniversita’ di GenovaItaly
  3. 3.Laboratorio Centrale, Istituto ScientificoOspedale San RaffaeleMilanItaly
  4. 4.Istituti Clinici di PerfezionamentoUniversita’ di MilanoItaly
  5. 5.Clinica Pediatrica IIUniversita’ di MilanoItaly

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