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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Detalhes bibliográficos
Main Authors: Aparisi, María José, García-García, Gema, Aller, Elena, Sequedo, María Dolores, Martínez-Fernández de la Cámara, Cristina, Rodrigo, Regina, Armengot, Miguel, Cortijo, Julio, Milara, Javier, Díaz-LLopis, Manuel, Jaijo, Teresa, Millán, José María
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581446/
https://ncbi.nlm.nih.gov/pubmed/23451239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0057506
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