Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

It is increasingly appreciated that missense variants may not only alter protein structure and function but may also influence pre-mRNA splicing and/or mRNA stability. Here we explore this issue in the context of currently known SPINK1 missense variants using a full-length gene assay. We demonstrate...

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Detalles Bibliográficos
Autores principales: Wu, Hao, Boulling, Arnaud, Cooper, David N., Li, Zhao-Shen, Liao, Zhuan, Férec, Claude, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664113/
https://www.ncbi.nlm.nih.gov/pubmed/28994706
http://dx.doi.org/10.3390/genes8100263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664113/
https://www.ncbi.nlm.nih.gov/pubmed/28994706
http://dx.doi.org/10.3390/genes8100263

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