Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy-Reference-Cited by-同舟云学术

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Published:2011-11-16 Issue:1 Volume:33 Page:104-108
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Vaché Christel,Besnard Thomas,le Berre Pauline,García-García Gema,Baux David,Larrieu Lise,Abadie Caroline,Blanchet Catherine,Bolz Hanno Jörn,Millan Jose,Hamel Christian,Malcolm Sue,Claustres Mireille,Roux Anne-Françoise

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21634/fullpdf

Reference19 articles.

1. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II;Aller;J Med Genet,2006

2. The USH2A c.2299delG mutation: dating its common origin in a Southern European population;Aller;Eur J Hum Genet,2010

3. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients;Baux;Hum Mutat,2007

4. Human Splicing Finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Res,2009

5. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies;Dhir;FEBS J,2010

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