The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-09035-1.pdf
Reference51 articles.
1. Jacobson, S. G. et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 12, 1073–8 (2003).
2. Richard, M. et al. Towards understanding CRUMBS function in retinal dystrophies. Hum. Mol. Genet. R235-43. doi: 10.1093/hmg/ddl195 (2006)
3. Pocha, S. M. & Knust, E. Complexities of Crumbs function and regulation in tissue morphogenesis. Curr. Biol. 23, R289–93 (2013).
4. Gosens, I., den Hollander, A. I., Cremers, F. P. M. & Roepman, R. Composition and function of the Crumbs protein complex in the mammalian retina. Exp. Eye Res. 86, 713–726 (2008).
5. Stenson, P. D. et al. The Human Gene Mutation Database: 2008 update. Genome Med. 1, 13 (2009).
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