G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)

Hum Mutat. 1998:Suppl 1:S154-5. doi: 10.1002/humu.1380110151.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Point Mutation

Substances

  • DNA
  • Glucosephosphate Dehydrogenase