Targeted Exon Sequencing in Usher Syndrome Type I

PURPOSE. Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. This syndrome is currently thought to be associated with at least six genes, which are encoded by over 180 exons. Here, we present the use of state-of-the-art techn...

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Pubblicato in:Invest Ophthalmol Vis Sci
Autori principali: Bujakowska, Kinga M., Consugar, Mark, Place, Emily, Harper, Shyana, Lena, Jaclyn, Taub, Daniel G., White, Joseph, Navarro-Gomez, Daniel, Weigel DiFranco, Carol, Farkas, Michael H., Gai, Xiaowu, Berson, Eliot L., Pierce, Eric A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Association for Research in Vision and Ophthalmology 2014
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4280089/
https://ncbi.nlm.nih.gov/pubmed/25468891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15169
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