Glucose-6-phosphate dehydrogenase (G6PD) deficiency-type Zurich: a splice site mutation as an uncommon mechanism producing enzyme deficiency

Blood. 2004 Oct 15;104(8):2608. doi: 10.1182/blood-2004-06-2135.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Glucosephosphate Dehydrogenase / analysis*
  • Glucosephosphate Dehydrogenase / chemistry
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Male
  • Models, Molecular
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Protein Structure, Tertiary
  • RNA Splice Sites / genetics*
  • Switzerland

Substances

  • RNA Splice Sites
  • Glucosephosphate Dehydrogenase