M J Percy

Summary

Affiliation: Northern Ireland
Country: UK

Publications

  1. request reprint
    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. ..
  2. 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. ..
  3. request reprint
    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. ..

Locale

Detail Information

Publications3

  1. request reprint
    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. ..
  2. 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. ..
  3. request reprint
    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. ..