Association of ABCA4 Gene Variants in Patients with Autosomal Recessive Cone-Rod Dystrophy and Retinitis Pigmentosa Cohorts from South India
Author:
Publisher
Allerton Press
Subject
Genetics,Agricultural and Biological Sciences (miscellaneous),Cell Biology
Link
https://link.springer.com/content/pdf/10.3103/S0095452723030088.pdf
Reference26 articles.
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2. Anna, A. and Monika, G., Splicing mutations in human genetic disorders: examples, detection, and confirmation, J. Appl. Genet., 2018, vol. 59, no. 3, pp. 253–268. https://doi.org/10.1007/s13353-018-0444-7
3. Battu, R., Verma, A., Hariharan, R., Krishna, S., Kiran, R., Jacob, J., Ganapathy, A., Ramprasad, V.L., Kumaramanickavel, G., Jeyabalan, N., and Ghosh, A., Identification of novel mutations in ABCA4 gene: clinical and genetic analysis of Indian patients with Stargardt disease, BioMed Res. Int., 2015, vol. 2015, p. 940864. https://doi.org/10.1155/2015/940864
4. Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., De Zaeytijd, J., Khan, M., Sadler, F., Balikova, I., Van Cauwenbergh, C., and Rosseel, T., ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants, Genet. Med., 2019, vol. 21, no. 8, pp. 1761–1771. https://doi.org/10.1038/s41436-018-0420-y
5. Chen, R., Davydov, E.V., Sirota, M., and Butte, A.J., Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association, PloS One, 2010, vol. 5, no. 10, p. e13574. https://doi.org/10.1371/journal.pone.0013574
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