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

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 exome ana...

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Detalles Bibliográficos
Autores principales: Ogier, Jacqueline M., Arhatari, Benedicta D., Carpinelli, Marina R., McColl, Bradley K., Wilson, Michael A., Burt, Rachel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882948/
https://www.ncbi.nlm.nih.gov/pubmed/29615807
http://dx.doi.org/10.1038/s41598-018-23856-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882948/
https://www.ncbi.nlm.nih.gov/pubmed/29615807
http://dx.doi.org/10.1038/s41598-018-23856-8

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