Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our se...

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Bibliographic Details
Main Authors: María José Aparisi, Gema García-García, Elena Aller, María Dolores Sequedo, Cristina Martínez-Fernández de la Cámara, Regina Rodrigo, Miguel Armengot, Julio Cortijo, Javier Milara, Manuel Díaz-LLopis, Teresa Jaijo, José María Millán
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3581446?pdf=render

Internet

http://europepmc.org/articles/PMC3581446?pdf=render

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