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Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

For more than three decades, researchers have known that consensus splice sites alone are not sufficient regulatory elements to provide complex splicing regulation. Other regulators, so-called splicing regulatory elements (SREs) are needed. Most importantly, their sequence variants often underlie th...

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Detalles Bibliográficos
Autores principales: Grodecká, Lucie, Buratti, Emanuele, Freiberger, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578058/
https://www.ncbi.nlm.nih.gov/pubmed/28758972
http://dx.doi.org/10.3390/ijms18081668