A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

• Authors: Y Minatogawa, S Tone, J Allsop, P E Purdue, Y Takada, C J Danpur, R Kido
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 1 Issue 8 Pg. 643-4 (Nov 1992) ISSN: 0964-6906 [Print] England
• PMID: 1301173 (Publication Type: Case Reports, Journal Article)

Chemical References

• Serine
• Phenylalanine
• DNA
• Transaminases
• Alanine Transaminase
• Alanine-glyoxylate transaminase

Topics

• Alanine Transaminase (genetics, metabolism)
• Base Sequence
• Catalysis
• DNA
• Female
• Humans
• Hyperoxaluria (enzymology, genetics)
• Male
• Molecular Sequence Data
• Phenylalanine (genetics)
• Polymerase Chain Reaction
• Serine (genetics)
• Transaminases