Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis
Author:
Publisher
BMJ
Subject
Gastroenterology
Reference4 articles.
1. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?;Rosendahl;Gut,2013
2. Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis;Ockenga;J Med Genet,2001
3. Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation;Király;Gut,2007
4. Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis;Kereszturi;Gut,2009
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1. Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay;Scientific Reports;2023-06-02
2. Alterations of Asymmetric Dimethylarginine (ADMA)-Containing Protein Profiles Associated with Chronic Pancreatitis Pathogenesis;Journal of Inflammation Research;2021-12
3. Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays;Frontiers in Genetics;2021-08-05
4. Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis;Journal of Biological Chemistry;2021-01
5. Early Intra-Acinar Events in Pathogenesis of Pancreatitis;Gastroenterology;2019-05
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