Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0699_188.pdf
Reference16 articles.
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2. Haeseleer, F., Huang, J., Lebioda, L., Saari, J.C. & Palczewski, K. Molecular characterization of a novel short-chain dehydrogenase/reductase that reduces all-trans-retinal. J. Biol. Chem. 273, 21790–21799 (1998).
3. Ruiz, A. et al. Molecular and biochemical characterization of lecithin retinol acyltransferase. J. Biol. Chem. 274, 3834–3841 (1999).
4. Simon, A., Lagercrantz, J., Bajalica-Lagercrantz, S. & Eriksson, U. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 36, 424–430 (1996).
5. Simon, A., Romert, A., Gustafsson, A.-L., McCaffrey, J.M. & Eriksson, U. Intracellular localization and membrane topology of 11-cis retinol dehydrogenase in the retinal pigment epithelium suggest a compartmentalized synthesis of 11-cis retinaldehyde. J. Cell Sci. 112, 549–558 (1999).
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