Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies-Reference-Cited by-同舟云学术

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Published:2015-08-26 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Beryozkin Avigail,Shevah Elia,Kimchi Adva,Mizrahi-Meissonnier Liliana,Khateb Samer,Ratnapriya Rinki,Lazar Csilla H.,Blumenfeld Anat,Ben-Yosef Tamar,Hemo Yitzhak,Pe’er Jacob,Averbuch Eduard,Sagi Michal,Boleda Alexis,Gieser Linn,Zlotogorski Abraham,Falik-Zaccai Tzipora,Alimi-Kasem Ola,Jacobson Samuel G.,Chowers Itay,Swaroop Anand,Banin Eyal,Sharon Dror

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep13187.pdf

Reference39 articles.

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2. den Hollander, A. I., Roepman, R., Koenekoop, R. K. & Cremers, F. P. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27, 391–419 (2008).

3. Rosenberg, T. Epidemiology of hereditary ocular disorders. Dev Ophthalmol 37, 16–33 (2003).

4. Bundey, S. & Crews, S. J. A study of retinitis pigmentosa in the City of Birmingham. I Prevalence. J Med Genet 21, 417–420 (1984).

5. Peterlin, B. et al. Prevalence of retinitis pigmentosa in Slovenia. Clin Genet 42, 122–123 (1992).

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