- Percy M, Gillespie M, Savage G, Hughes A, McMullin M, Lappin T. Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. Blood. 2002;100:3447-9 pubmed..Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified. ..
- Percy M, Mooney S, McMullin M, Flores A, Lappin T, Lee F. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation. Mol Cancer. 2003;2:31 pubmed..Thus, it is unlikely that this polymorphism accounts for the erythrocytosis in the group of IE patients studied. ..
- Percy M, Oren H, Savage G, Irken G. Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase. Hematol J. 2004;5:367-70 pubmed..The infant was started on daily ascorbic acid treatment. She has very mild cyanosis and normal growth and developmental parameters on follow-up at 10 months of age. ..