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  • Title: A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
    Author: Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N.
    Journal: Mol Genet Metab; 2006 Nov; 89(3):280-2. PubMed ID: 16765626.
    Abstract:
    Succinyl-CoA: 3-ketoacid-CoA transferase (SCOT; locus symbol OXCT, EC 2.8.3.5) deficiency is a rare genetic disorder affecting ketone body utilization in extra-hepatic tissues. A 6-bp deletion at the splice donor site of intron 1 resulted in the absence of a full-length mature SCOT mRNA with faint amounts of aberrantly spliced transcripts using a cryptic splice donor site within exon 1, which was located just 7 bases upstream from the authentic site in a SCOT deficient patient.
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