Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five
Author:
Affiliation:
1. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark
2. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark
Funder
Aarhus Universitetshospital
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1381
Reference32 articles.
1. Mutation screening at the RNA level of theSTK11/LKB1gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11c.597⁁598insIVS4)
2. Andrews S.(2010).FastQC [Computer software]. Retrieved fromhttp://www.bioinformatics.babraham.ac.uk/projects/fastqc/
3. A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro
4. Functional analysis of the polypyrimidine tract in pre-mRNA splicing
5. HGVS Recommendations for the Description of Sequence Variants: 2016 Update
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1. Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center;Clinics in Colon and Rectal Surgery;2023-05-03
2. Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?;American Journal of Medical Genetics Part A;2022-08-10
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