Journal home
Advance online publication
Current issue
Archive
Press releases
Free Association (blog)
Supplements
Focuses
Guide to authors
Online submissionOnline submission
For referees
Free online issue
Contact the journal
Subscribe
Advertising
work@npg
Reprints and permissions
About this site
For librarians
 
NPG Resources
Nature
Nature Biotechnology
Nature Cell Biology
Nature Medicine
Nature Methods
Nature Reviews Cancer
Nature Reviews Genetics
Nature Reviews Molecular Cell Biology
news@nature.com
Nature Conferences
RNAi Gateway
NPG Subject areas
Biotechnology
Cancer
Chemistry
Clinical Medicine
Dentistry
Development
Drug Discovery
Earth Sciences
Evolution & Ecology
Genetics
Immunology
Materials Science
Medical Research
Microbiology
Molecular Cell Biology
Neuroscience
Pharmacology
Physics
Browse all publications
Correspondence
Nature Genetics  17, 139 - 141 (1997)
doi:10.1038/ng1097-139

Mutations in RPE65 cause Leber's congenital amaurosis

Françoise Marlhens1, Corinne Bareil2, Jean-Michel Griffoin1, Eberhart Zrenner3, Pierre Amalric4, Claudie Eliaou5, Su-Yan Liu6, Eddie Harris6, T. Michael Redmond6, Bernard Arnaud5, Mireille Claustres2 & Christian P. Hamel7

  1Laboratoire de Neurobiologie de I'Audition-Plasticité Synaptiquef INSERM U. 254, Hôpital Saint Charles, 300, rue Auguste Broussonnet, 34295 Montpellier cedex 5, France.

  2Laboratoire de Biochimie Génétique, Institut de Biologic, Montpellier, France.

  3Pathophysiology of Vision, University Eye Hospital, Tübingen, Germany.

  4Cabinet d'Opthalmologie, 6, rue Saint Clair, Albi, France.

  5Service d'Optalmolgie, Hôpital Gui de Chauliac, Montpellier, France.

  6Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

  7e-mail: biomol@mnet.fr.


REFERENCES
  1. Hamel, C.P. et al. J. Neurosci. Res. 34, 414−425 (1993). | ChemPort |
  2. Hamel, C.P. et al. J. Biol. Chem. 268, 15751−15757 (1993). | PubMed  | ISI | ChemPort |
  3. Crouch, R.K., Goletz, P., Yu, S. & Redmond, T.M., Invest. Ophthalmol. Vis. Sci. 38, S304 (1997).
  4. Sullivan, L.S. & Daiger, S.P. Mol. Med. Today 2, 380−386 (1996). | Article | PubMed  | ISI | ChemPort |
  5. Leber, T. .15, 13−20 (1869).
  6. Redmond, T.M. et al. Invest. Ophthalmol. Vis. Sci. 36, s598 (1995). | ISI |
  7. Mullen, R.J. & LaVail, M.M. Science 192, 799−801 (1976). | PubMed  | ISI | ChemPort |
  8. Weber, B.H.F., Vogt, G., Pruett, R.C., Stöhr, H. & Felbor, U., 8, 352−356 (1994). | ChemPort |
  9. Camuzat, A. et al. Hum. Mol. Genet. 4, 1447−1452 (1995). | PubMed  | ISI | ChemPort |
  10. Perrault, I. et al. Nature Genet. 14, 461−464 (1996). | Article | PubMed  | ISI | ChemPort |
  11. Hamel, C.P., Jenkins, N.A., Gilbert, D.J., Copeland, N.G. & Redmond, T.M. Genomics 20, 509−512 (1994). | Article | PubMed  | ISI | ChemPort |
  12. Foxman, S.G., Heckenlively, J.R., Bateman, J.B. & Wirtschafter, J.D., Arch. Ohthalmol. 103, 1502−1506 (1985). | ChemPort |
  13. Li, T. & Davidson, B.L., Proc. Natl. Acad. Sci. USA 92, 7700−7704 (1995). | PubMed  | ChemPort |
 Top
 Top
References
Previous | Next
Table of contents
Download PDFDownload PDF
Send to a friendSend to a friend
Save this linkSave this link

naturejobs

References
Export citation
Export references
natureproducts

Search buyers guide:

 
ADVERTISEMENT
 
Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
Journal home | Advance online publication | Current issue | Archive | Press releases | Supplements | Focuses | For authors | Online submission | Permissions | For referees | Free online issue | About the journal | Contact the journal | Subscribe | Advertising | work@npg | naturereprints | About this site | For librarians
Nature Publishing Group, publisher of Nature, and other science journals and reference works©1997 Nature Publishing Group | Privacy policy