An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Abstract Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing. Clinical...

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Autores principales: Jacqueline M. Ogier, Benedicta D. Arhatari, Marina R. Carpinelli, Bradley K. McColl, Michael A. Wilson, Rachel A. Burt
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/dccb49ac7e9d41fc8ef1bf8b1792125f
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