Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation
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Publisher
Pleiades Publishing Ltd
Link
https://link.springer.com/content/pdf/10.1134/S1022795424040100.pdf
Reference53 articles.
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2. Jespersgaard, C., Fang, M., Bertelsen, M., et al., Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy, Sci. Rep., 2019, vol. 9, no. 1, p. 1219. https://doi.org/10.1038/s41598-018-38007-2
3. Sharon, D., Ben-Yosef, T., Goldenberg-Cohen, N., et al., A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC), Hum. Mutat., 2020, vol. 41, no. 1, pp. 140—149. https://doi.org/10.1002/humu.23903
4. Weisschuh, N., Obermaier, C.D., Battke, F., et al., Genetic architecture of inherited retinal degeneration in Germany: a large cohort study from a single diagnostic center over a 9-year period, Hum. Mutat., 2020, vol. 41, no. 9, pp. 1514—1527. https://doi.org/10.1002/humu.24064
5. Rivolta, C., Sharon, D., DeAngelis, M.M., and Dryja, T.P., Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns, Hum. Mol. Genet., 2002, vol. 11, no. 10, pp. 1219—1227. https://doi.org/10.1093/hmg/11.10.1219
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