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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Dades bibliogràfiques
Publicat a:Mol Ther Methods Clin Dev
Autors principals: Broeders, Mike, Smits, Kasper, Goynuk, Busra, Oussoren, Esmee, van den Hout, Hannerieke J.M.P., Bergsma, Atze J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Format: Artigo
Idioma:Inglês
Publicat: American Society of Gene & Cell Therapy 2020
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7648089/
https://ncbi.nlm.nih.gov/pubmed/33209960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtm.2020.09.004
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