A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II

Am J Med Genet A. 2005 Feb 15;133A(1):101-2. doi: 10.1002/ajmg.a.30467.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Cytochrome-B(5) Reductase / blood
  • Cytochrome-B(5) Reductase / deficiency
  • Cytochrome-B(5) Reductase / genetics*
  • Erythrocytes / enzymology
  • Erythrocytes / metabolism
  • Family Health
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Male
  • Methemoglobin / metabolism
  • Methemoglobinemia / enzymology
  • Methemoglobinemia / genetics*
  • Methemoglobinemia / pathology
  • Mutation

Substances

  • Methemoglobin
  • Cytochrome-B(5) Reductase