Recessive congenital methaemoglobinaemia type II a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene.
Owen
E P
EP
Department of Chemical Pathology, University of Cape Town, South Africa.
Berens
J
J
Marinaki
A M
AM
Ipp
H
H
Harley
E H
EH
D002675:Child, Preschool; D003579:Cytochrome Reductases / Q000235:genetics*; D042966:Cytochrome-B(5) Reductase; D004247:DNA / Q000032:analysis; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000235:genetics*; D009154:Mutation / Q000502:physiology*; D016133:Polymerase Chain Reaction
D004247:DNA; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase