Mutation in the PYK2-Binding Domain of PITPNM3 Causes Autosomal Dominant Cone Dystrophy (CORD5) in Two Swedish Families
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Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-0-387-74904-4_26.pdf
Reference18 articles.
1. Balciuniene, J., Johansson, K., Sandgren, O., Wachtmeister, L., Holmgren, G., and Forsman, K., 1995, A gene for autosomal dominant progressive cone dystrophy maps to chromosome 17p12-p13, Genomics. 30:281.
2. Elagin, V.A., Elagina, R. B., Doro, C. J., Vihtelic, T. S., and Hyde, D. R., 2000, Cloning and tissue localization of a novel zebrafish RdgB homolog that lacks a phospholipid transfer domain, Vis Neurosci. 17:303.
3. van Ghelue, M., Eriksen, H. L., Ponjavic, V., Fagerheim, T., Andreasson, S., Forsman-Semb, K., Sandgren, O., Holmgren, G., and vTranebjaerg, L., 2000, Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in retinal guanylate cyclase gene (RETGC-1) is associated with considerable variation, Ophthalmol Genet. 21:197.
4. Harris, W. A., and Stark, W. S., 1977, Hereditary retinal degeneration in Drosophila melanogaster, A mutant defect associated with the phototransduction process, J Gen Physiol. 69:261.
5. Kelsell, R. E., Evans, K., Gregory, C. Y., Moore, A. T., Bird, A. C., and Hunt, D. M., 1997, Localization of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p, Hum Molec Genet. 6:597.
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