Article
Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models.
BMC biology - 1 Feb 2023
Joachimiak Paweł, Ciesiołka Adam, Kozłowska Emilia, Świtoński Paweł M, Figura Grzegorz, Ciołak Agata, Adamek Grażyna, Surdyka Magdalena, Kalinowska-Pośka Żaneta, Figiel Maciej, Caron Nicholas S, Hayden Michael R, Fiszer Agnieszka
Abstract excerpt
BACKGROUND: The majority of genes in the human genome is present in two copies but the expression levels of both alleles is not equal. Allelic imbalance is an aspect of gene expression relevant not only in the context of genetic variation, but also to understand the pathophysiology of genes implicated in genetic disorders, in particular, dominant genetic diseases where patients possess one normal and one mutant...
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