High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Author:
Funder
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-35085-0.pdf
Reference80 articles.
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2. Cohen, M., Bitner-Glindzicz, M. & Luxon, L. The changing face of Usher syndrome: clinical implications. Int. J. Audiol. 46, 82–93 (2007).
3. Millán, J. M. et al. An Update on the Genetics of Usher Syndrome. J. Ophthalmol. 2011 (2011).
4. Mathur, P. & Yang, J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim. Biophys. Acta 1852, 406–420 (2015).
5. Ebermann, I. et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J. Clin. Invest. 120, 1812–1823 (2010).
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