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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Invest Ophthalmol Vis Sci
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The Association for Research in Vision and Ophthalmology 2014
Θέματα:
Articles
Διαθέσιμο 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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