A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition-Reference-Cited by-同舟云学术

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition

Published:2020-05 Issue:1 Volume:130 Page:27-35
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Häuser Friederike,Gökce Seyfullah,Werner Gesa,Danckwardt Sven,Sollfrank Stefanie,Neukirch Carolin,Beyer Vera,Hennermann Julia B.,Lackner Karl J.,Mengel Eugen,Rossmann Heidi

Funder

German Federal Ministry of Education and Research

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference41 articles.

1. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016

2. From cryptic toward canonical pre-mRNA splicing in Pompe disease: A pipeline for the development of antisense oligonucleotides;Bergsma;Mol. Ther. Nucleic Acids,2016

3. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Abramowicz;J. Appl. Genet.,2018

4. Genomic variants in exons and introns: identifying the splicing spoilers;Pagani;Nat. Rev. Genet.,2004

5. The skipping of constitutive exons in vivo induced by nonsense mutations;Dietz;Science,1993

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