Article
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
Human molecular genetics - 1 Jun 1994
Ogasawara M, Matsubara Y, Mikami H, Narisawa K
Abstract excerpt
Genetic defects in the methylmalonyl-CoA mutase (MCM) gene result in methylmalonic acidemia which is inherited as an autosomal recessive disease. We investigated fibroblast cultures obtained from two Japanese patients with MCM deficiency. MCM mRNA was not detected by Northern blot analysis, sugge...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Blotting, Northern
- Cells, Cultured
- Child
- DNA Primers
- Female
- Fibroblasts
- Frameshift Mutation
- Gene Expression
- Genes, Recessive
- Humans
- Infant
- Japan
- Male
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Mutation