A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis

Molecular basis of recessive congenital

Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene

✍ Wilfried Kugler; Arnulf Pekrun; Petra Laspe; Bernhard Erdlenbruch; Max Lakomek 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)cytochrome b5 reductase (b5R) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5R gene of three unrelated patients with types I and II and found four novel muta