Article
Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
Biochemical and biophysical research communications - 15 May 1991
Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A
Abstract excerpt
cDNA clones for serine:pyruvate aminotransferase (SPT, alternative name: alanine:glyoxylate aminotransferase) were obtained from a cDNA library constructed from the liver of a primary hyperoxaluria type I (PH1) case in which the SPT activity was approximately one-hundredth that in control liver....
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Catalase
- Cloning, Molecular
- Cytosine
- Female
- Gene Library
- Genes
- Glutamate Dehydrogenase
- Humans
- Hyperoxaluria
- L-Lactate Dehydrogenase
- Liver
- Male
- Molecular Sequence Data
- Mutation