Article
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.
American journal of human genetics - 1 Mar 1997
Chamberlin M E, Ubagai T, Mudd S H, Levy H L, Chou J Y
Abstract excerpt
Methionine adenosyltransferase (MAT) I/III deficiency, characterized by isolated persistent hypermethioninemia, is caused by mutations in the MAT1A gene encoding MAT(alpha)1, the subunit of major hepatic enzymes MAT I ([alpha1]4) and III([alpha1]2). We have characterized 10 MAT1A mutations in MAT...
Topics
- Adolescent
- Alleles
- Child
- Child, Preschool
- Dimerization
- Exons
- Female
- Genes, Dominant
- Humans
- Infant
- Isoenzymes
- Male
- Methionine
- Methionine Adenosyltransferase
- Pedigree
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational