Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies-Reference-Cited by-同舟云学术

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

Published:2016-06 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Tiwari Amit,Bahr Angela,Bähr Luzy,Fleischhauer Johannes,Zinkernagel Martin S.,Winkler Niklas,Barthelmes Daniel,Berger Lieselotte,Gerth-Kahlert Christina,Neidhardt John,Berger Wolfgang

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep28755.pdf

Reference31 articles.

1. Berger, W., Kloeckener-Gruissem, B. & Neidhardt, J. The molecular basis of human retinal and vitreoretinal diseases. Progress in retinal and eye research 29, 335–375, doi: 10.1016/j.preteyeres.2010.03.004 (2010).

2. Hartong, D. T., Berson, E. L. & Dryja, T. P. Retinitis pigmentosa. Lancet 368, 1795–1809, doi: 10.1016/S0140-6736(06)69740-7 (2006).

3. Venturini, G., Rose, A. M., Shah, A. Z., Bhattacharya, S. S. & Rivolta, C. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS genetics 8, e1003040, doi: 10.1371/journal.pgen.1003040 (2012).

4. Maubaret, C. G. et al. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Investigative ophthalmology & visual science 52, 9304–9309, doi: 10.1167/iovs.11-8372 (2011).

5. Vithana, E. N. et al. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Investigative ophthalmology & visual science 44, 4204–4209 (2003).

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