Sökning: "Ann-charlotte Thuresson"
Hittade 2 avhandlingar innehållade orden Ann-charlotte Thuresson.
1. Regulation of Mammalian Poly(A) Polymerase Activity
Sammanfattning : Poly(A) polymerase (PAP) is the enzyme catalyzing the synthesis of the adenine tail to the 3’-end of mRNA. This A-tail is present on the majority of the primary RNA transcripts of protein-coding genes, and is important for mRNA stability, export to the cytoplasm and translation. Therefore, PAP is a key regulator of eukaryotic gene expression. LÄS MER
2. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER