Article
Analysis of mutant NADH-cytochrome b5 reductase: apparent "type III" methemoglobinemia can be explained as type I with an unstable reductase.
Blood - 1 Feb 1993
Nagai T, Shirabe K, Yubisui T, Takeshita M
Abstract excerpt
A patient in Kurobe, Japan, was previously reported to have a new class of hereditary methemoglobinemia, type III. In this patient, NADH cytochrome b5 reductase deficiency was observed in lymphocytes and platelets as well as in erythrocytes, but this was not associated with mental retardation. A...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Cells, Cultured
- Cytochrome Reductases
- Cytochrome-B(5) Reductase
- Enzyme Stability
- Fibroblasts
- Humans
- Kinetics
- Leucine
- Male
- Methemoglobinemia
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Oligodeoxyribonucleotides