Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation-Reference-Cited by-同舟云学术

Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation

Published:2018-09 Issue: Volume:193 Page:114-129
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Calzetti Giacomo,Levy Richard A.,Cideciyan Artur V.^ORCID,Garafalo Alexandra V.,Roman Alejandro J.,Sumaroka Alexander,Charng Jason,Heon Elise,Jacobson Samuel G.

Funder

Macula Vision Research Foundation

Chatlos Foundation

Research to Prevent Blindness

Publisher

Elsevier BV

Subject

Ophthalmology

Reference50 articles.

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2. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth;Lefèvre;Development,2008

3. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy;Williams;Vision Res,2008

4. Mutation analysis in the long isoform of USH2A in American patients with Usher syndrome type II;Yan;J Hum Genet,2009

5. The effect of the common c.2299delG mutation in USH2A on RNA splicing;Lenassi;Exp Eye Res,2014

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