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Cystic Fibrosis Delta F508 Mutation in a French Population

  • G. Lucotte
  • E. Barre
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)

Abstract

The recent identification of the cystic fibrosis (CF) gene (Rommens et al., 1989; Riordan et al., 1989; Kerem et al., 1989) and of the three base pair deletion delta F508 as its most common mutation is of great importance both for basic CF research and for clinical genetics. Genetic evidence established that 68% of CF chromosomes were found to carry delta F508 (whereas this mutation was never seen on normal chromosomes) and that chromosomes with the deletion nearly always had an (XV-2c)l, (KM.19)2 haplotype (previously designated as a “high risk” haplotype for CF) .

Keywords

Cystic Fibrosis Cystic Fibrosis Patient Clinical Genetic Normal Chromosome FRENCH Population 
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.

References

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Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • G. Lucotte
    • 1
  • E. Barre
    • 1
  1. 1.Laboratoire d’Anthropologie PhysiqueCollege de France Paris 5eFrance

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