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Article

Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.

British journal of haematology - 1 Jun 2005

Percy M J, Crowley L J, Davis C A, McMullin M F, Savage G, Hughes J, McMahon C, Quinn R J M, Smith O, Barber M J, Lappin T R J

Abstract excerpt

Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b(5) reductase (cytb(5)r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb(5)r in previously reported patients, and we have detected a further novel mutation,...

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PMID: 15953014
DOI: 10.1111/j.1365-2141.2005.05526.x

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