Article
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
Nucleosides, nucleotides & nucleic acids - 1 Jan 2006
van Kuilenburg A B P, Meinsma R, Assman B, Hoffman G F, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling N G G M, Wevers R A, Rutsch F, van Gennip A H
Abstract excerpt
beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site...
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