Ontology highlight
ABSTRACT:
SUBMITTER: Xu X
PROVIDER: S-EPMC7938451 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Experimental and therapeutic medicine 20210225 4
The present study aimed to analyze gene mutations in patients with β-ureidopropinoase deficiency and establish a rapid detection method for β-ureidopropinoase (<i>UPB1</i>) pathogenic variations by high resolution melting (HRM) analysis. DNA samples with known <i>UPB1</i> mutations in three patients with β-ureidopropinoase deficiency were utilized to establish a rapid detection method for <i>UPB1</i> pathogenic variations by HRM analysis. Further rapid screening was performed on two patients dia ...[more]