Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1295-468.pdf
Reference32 articles.
1. Dryja, T.P.R. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. molec. Genet. 4, 1739–1743 (1995).
2. Stryer, L. Cyclic GMP cascade of vision. Ann. Rev. Neurosci. 9, 87–119 (1986).
3. Dryja, T.P. et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343, 364–366 (1990).
4. Dryja, T.R., Finn, J.T., Peng, Y.W., McGee, T.L., Berson, E.L. & Yau, K.W. Mutations in the gene encoding the a subunrt of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A 92, 10177–10181 (1995).
5. McLaughlin, M.E., Sandberg, M.A., Berson, E.L & Dryja, T.P. Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet. 4, 130–134 (1993).
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