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Article

Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2013

Meijer J, Nakajima Y, Zhang C, Meinsma R, Ito T, Van Kuilenburg A B P

Abstract excerpt

β-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyzes the conversion of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid to β-alanine and β-aminoisobutyric acid, respectively, and ammonia and CO2. To date, only 16 genetically confirmed patients wi...

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Source

Identifiers

PMID: 24328561
DOI: 10.1080/15257770.2013.847189

Genes

UPB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24328561-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.PMID 24328561Read ↗

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