A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction of disease severity, and development of therapy. However, the effects of disease-associated variants on pre-mRNA splicing and mRNA degradation...

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Bibliographic Details
Main Authors: Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
lysosomal disease
splicing
antisense oligonucleotides
pseudo exon
diagnosis
nonsense mediated decay
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050120301893

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