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) family and found that the patient was a compound heterozygote for two novel mutations. The first mutation was a C-to-A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.