Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Complexity in a monogenic disease

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Welch, M.J., Tsui, L.-T., Boat, T.F. & Beaudet, A.L. in The Metabolic Basis of Inherited Disease (eds Scriver C.L., Beaudet A.L, Sly W.S. & Valle D.) 3799–3876 (McGraw-Hill Inc, New York, 1995).

    Google Scholar 

  2. Riordan, J.R. et al. Science 245, 1066–1073 (1989).

    Article  CAS  Google Scholar 

  3. Kerem, B.-S. et al. Science 246, 1073–1080 (1989).

    Article  Google Scholar 

  4. Anderson, M.R. et al. Cell 67, 775–784 (1991).

    Article  CAS  Google Scholar 

  5. Rozmahel, R. Nature Genet. 12, 280–287 (1996).

    Article  CAS  Google Scholar 

  6. Dorin, J.R. et al. Nature 359, 211–215 (1992).

    Article  CAS  Google Scholar 

  7. Ratliff, R. et al. Nature Genet. 4, 35–41 (1992).

    Article  Google Scholar 

  8. Snouwaert, J.N. et al. Science 257, 1083–1088 (1992).

    Article  CAS  Google Scholar 

  9. O'Neal, W.K. et al. Hum. Mol. Genet. 2, 1561–1569 (1993).

    Article  CAS  Google Scholar 

  10. Colledge, W.H. et al. Nature Genet. 10, 445–452 (1995).

    Article  CAS  Google Scholar 

  11. Davidson, D.J. et al. Nature Genet. 9, 351–357 (1995).

    Article  CAS  Google Scholar 

  12. Brilliant, M.H. et al. Mamm. Genome. 5, 8104–8123 (1994).

    Google Scholar 

  13. Kristidis, P. et al. Am. J. Hum. Genet. 50, 1178–1184 (1992).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Nunes, V. et al. Hum. Mol. Genet. 2, 79–80 (1993).

    Article  CAS  Google Scholar 

  15. Wilschanski, M. et al. J. Pediatr. 127, 705–710 (1995).

    Article  CAS  Google Scholar 

  16. Shepard, D.N. et al. Nature 362, 160–164 (1993).

    Article  Google Scholar 

  17. Welsh, M.J. & Smith, A.E. Cell 73, 1251–1254 (1993).

    Article  CAS  Google Scholar 

  18. Chu, C.S. et al. EMBO J. 10, 1355–1363 (1991).

    Article  CAS  Google Scholar 

  19. Chillón, M. et al. N. Engl. J. Med. 332, 1475–1480 (1995).

    Article  Google Scholar 

  20. Highsmith, W E. et al. N. Engl. J. Med. 331, 974–980 (1994).

    Article  CAS  Google Scholar 

  21. The Cystic Fibrosis Genotype-Phenotype Consortium. N. Engl. J. Med. 329, 1309–1313 (1993).

  22. Cutting, G.R. et al. N. Engl. J. Med. 323, 1685–1689 (1990).

    Article  CAS  Google Scholar 

  23. Gasparini, P. et al. J. Med. Genet. 29, 558–562 (1992).

    Article  CAS  Google Scholar 

  24. Jarvi, K. et al. Lancet 345, 1578 (1995).

    Article  CAS  Google Scholar 

  25. Mercier, B. et al. Am. J. Hum. Genet. 56, 272–277 (1995).

    Article  CAS  Google Scholar 

  26. Estivill, X. et al. Hum. Genet. 95, 331–336 (1995).

    Article  CAS  Google Scholar 

  27. Dörk, T. et al. Hum. Genet. 87, 441–446 (1991).

    Article  Google Scholar 

  28. Kiesewetter, S. et al. Nature Genet. 5, 274–278 (1993).

    Article  CAS  Google Scholar 

  29. Chillón, M. et al. Am. J. Hum. Genet. 56, 623–629 (1995).

    PubMed  PubMed Central  Google Scholar 

  30. Pignati, P.F. et al. Am. J. Hum. Genet. (in the press).

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Estivill, X. Complexity in a monogenic disease. Nat Genet 12, 348–350 (1996). https://doi.org/10.1038/ng0496-348

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0496-348

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing