Article
Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
American journal of human genetics - 1 Apr 1991
Katsube T, Sakamoto N, Kobayashi Y, Seki R, Hirano M, Tanishima K, Tomoda A, Takazakura E, Yubisui T, Takeshita M
Abstract excerpt
We analyzed the NADH-cytochrome b5 reductase gene of hereditary methemoglobinemia type I and type III, by using PCR-related techniques. The mutation in type I is a guanine-to-adenine substitution in codon 57 of exon 3 of the NADH-cytochrome b5 reductase gene, and the sense of this codon is change...
Topics
- Adult
- Base Sequence
- Chromosome Mapping
- Cytochrome Reductases
- Cytochrome-B(5) Reductase
- Deoxyribonuclease HpaII
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Homozygote
- Humans
- Introns
- Male
- Methemoglobinemia
- Molecular Sequence Data