New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia

Ann Hematol. 2013 May;92(5):715-7. doi: 10.1007/s00277-012-1616-x. Epub 2012 Nov 9.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 5'-Nucleotidase / chemistry
  • 5'-Nucleotidase / genetics*
  • Adult
  • Amino Acid Substitution
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Base Sequence
  • Codon, Terminator / genetics
  • Family
  • Glutamic Acid / genetics
  • Homozygote
  • Humans
  • India
  • Male
  • Models, Molecular
  • Mutation, Missense* / physiology
  • Young Adult

Substances

  • Codon, Terminator
  • Glutamic Acid
  • 5'-Nucleotidase