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Frequency of the major CF mutation in French CF patients

  • Population analysis of the major mutation in cystic fibrosis
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Summary

We have studied 124 patients of French origin, whose CF status had already been clearly established. These children belong to families previously tested with restriction fragment length polymorphism (RFLP) markers in our laboratory for genetic counselling. The most common mutation (4F508) accounts for 67% in this population sample.

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Authors and Affiliations

  1. Institut de Pathologie Moléculaire, CHU Cochin, 24, Rue du Faubourg St. Jacques, F-75014, Paris, France

    J. C. Chomel, A. Haliassos, L. Tesson, J. C. Kaplan & A. Kitzis

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  1. J. C. Chomel
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  2. A. Haliassos
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  3. L. Tesson
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  4. J. C. Kaplan
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  5. A. Kitzis
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Chomel, J.C., Haliassos, A., Tesson, L. et al. Frequency of the major CF mutation in French CF patients. Hum Genet 85, 397–398 (1990). https://doi.org/10.1007/BF02428273

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  • DOI: https://doi.org/10.1007/BF02428273

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