The Molecular Basis for Disease Variability in Cystic Fibrosis

@article{Kerem1996TheMB,
  title={The Molecular Basis for Disease Variability in Cystic Fibrosis},
  author={B. Kerem and E. Kerem},
  journal={European Journal of Human Genetics},
  year={1996},
  volume={4},
  pages={65-73}
}
  • B. Kerem, E. Kerem
  • Published 1996
  • Biology, Medicine
  • European Journal of Human Genetics
  • Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized by a wide variability of clinical expression. The cloning of the CFTR gene and the identification of its mutations has promoted extensive research into the association between genotype and phenotype. Several studies showed that there are mutations, like the ΔF508 (the most common mutation worldwide), which are associated… CONTINUE READING
    98 Citations

    Topics from this paper

    Molecular pathology of the CFTR locus in male infertility.
    • M. Claustres
    • Biology, Medicine
    • Reproductive biomedicine online
    • 2005
    • 108
    CFTR Gene Mutations in Adults with Disseminated Bronchiectasis
    • 152
    Pharmacological Approaches to Correcting the Ion Transport Defect in Cystic Fibrosis
    • G. Roomans
    • Chemistry, Medicine
    • American journal of respiratory medicine : drugs, devices, and other interventions
    • 2003
    • 41
    Modifier genes in cystic fibrosis lung disease.
    • C. Merlo, M. Boyle
    • Biology, Medicine
    • The Journal of laboratory and clinical medicine
    • 2003
    • 89
    Mild clinical phenotype associated with R1158X/S549R(T→G) CFTR genotype
    • 1

    References

    SHOWING 1-10 OF 58 REFERENCES
    The relationship between genotype and phenotype in cystic fibrosis.
    • 44
    A cystic fibrosis mutation associated with mild lung disease.
    • 173
    • PDF
    Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
    • 901
    • PDF
    Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis
    • I. Mcintosh, G. Cutting
    • Biology, Medicine
    • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
    • 1992
    • 51