Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Autor: Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., Stockton, David W., Rammesmayer, Gabriele, Lupski, James R., Antinolo, Guillermo, Ayuso, Carmen, Baiget, Montserrat, Gouras, Peter, Heckenlively, John R., den Hollander, Anneke, Jacobson, Samuel G., Lewis, Richard A., Sieving, Paul A., Wissinger, Bernd, Yzer, Suzanne
Zdroj: Human Molecular Genetics; Dec2005, Vol. 14 Issue 24, p3865-3875, 11p
Databáze: Complementary Index