Associated Papers
Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.
Yesmin F et al.
Journal of Biochemistry, 2020
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
Tarn AC et al.
Journal of Inherited Metabolic Disease, 1997
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
Minatogawa Y et al.
Human Molecular Genetics, 1992
Select a paper to view details