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

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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Bibliographic Details
Main Authors: Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Genes
Subjects:
chronic pancreatitis
full-length gene assay
minigene assay
missense variant
mRNA stability
pre-mRNA splicing
SPINK1 gene
Online Access:https://www.mdpi.com/2073-4425/8/10/263

Internet

https://www.mdpi.com/2073-4425/8/10/263

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