Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep19759.pdf
Reference34 articles.
1. Sullivan, L. S. et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 47, 3052–64 (2006).
2. Chakarova, C. F. et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 11, 87–92 (2002).
3. Benjaminy, S., Kowal, S. P., MacDonald, I. M. & Bubela, T. Communicating the promise for ocular gene therapies: challenges and recommendations. Am J Ophthalmol 160, 408–415 e2 (2015).
4. Daiger, S. P., Sullivan, L. S. & Bowne, S. J. Genes and mutations causing retinitis pigmentosa. Clin Genet 84, 132–41 (2013).
5. Daiger, S. P., Bowne, S. J. & Sullivan, L. S. Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa. Cold Spring Harb Perspect Med (2014).
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