4 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 35151535 | β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. | 2022 Jul | 1 |
2 | 24940676 | Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing. | 2014 | 1 |
3 | 24328561 | Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing. | 2013 | 1 |
4 | 17065070 | Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. | 2006 | 1 |