Ontology highlight
ABSTRACT:
SUBMITTER: Broeders M
PROVIDER: S-EPMC7648089 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Broeders Mike M Smits Kasper K Goynuk Busra B Oussoren Esmee E van den Hout Hannerieke J M P HJMP Bergsma Atze J AJ van der Ploeg Ans T AT Pijnappel W W M Pim WWMP
Molecular therapy. Methods & clinical development 20200916
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 are difficult to predict and often missed. Here we present a generic assay for unbiased identification and quantification of arylsulfatase B (<i>ARSB</i>) mRNA for molecular diagnosis of patients wit ...[more]