A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy
Author:
Funder
The Jikei University Research Fund
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s10633-021-09826-y.pdf
Reference32 articles.
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3. Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW et al (2018) Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 66:157–186. https://doi.org/10.1016/j.preteyeres.2018.03.005
4. Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 11:468–471. https://doi.org/10.1038/ng1295-468
5. Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW (1995) Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 92:10177–10181. https://doi.org/10.1073/pnas.92.22.10177
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