Article
Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia.
Blood - 15 Oct 1996
Manabe J, Arya R, Sumimoto H, Yubisui T, Bellingham A J, Layton D M, Fukumaki Y
Abstract excerpt
Hereditary methemoglobinemia due to reduced nicotinamide adenine dinucleotide (NADH) cytochrome b5 reductase (b5R) deficiency is classified into two types, an erythrocyte (type I) and a generalized (type II). We investigated the b5R gene of a patient with type II from a white United Kingdom (UK)...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Catalysis
- Child
- Cloning, Molecular
- Codon
- Cytochrome Reductases
- Cytochrome-B(5) Reductase
- DNA Mutational Analysis
- Escherichia coli
- Female
- Heterozygote
- Humans
- Intellectual Disability
- Kinetics
- Male
- Methemoglobinemia