Article
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
Blood - 15 Apr 1995
Vieira L M, Kaplan J C, Kahn A, Leroux A
Abstract excerpt
Recessive congenital methemoglobinemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types of diseases. In the type I form, cyanosis is the only symptom, and the soluble enzyme is defective in red blood cells. In the type II form, cyanosis is associated with...
Topics
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Codon
- Cytochrome Reductases
- Cytochrome-B(5) Reductase
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Flavin-Adenine Dinucleotide
- Genes
- Genes, Recessive
- Humans
- Introns
- Methemoglobinemia
- Molecular Sequence Data
- Mutation
- NAD