https://www.selleckchem.com/pr....oducts/tauroursodeox
4%) and the full-length isoform (29.6%). Δ(E1q141) would provoke the loss of 47 amino-acids of the N-terminal domain that encodes for substrate specificity. Thus, the three anomalous transcripts are likely to inactivate UGT1A1. Moreover, this patient is also homozygous for the promoter variant A(TA)7TAA that decreases UGT1A1 expression by 70%, so the full-length transcript produced by c.864+5GT would be even more reduced ( less then 9%), thus supporting the diagnosis of CNS-type II. Therefore, minigenes represent v
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