Pyruvate kinase deficiency: prevalence of the 1456C-->T mutation in the Portuguese population

Clin Genet. 2001 Dec;60(6):472-3. doi: 10.1034/j.1399-0004.2001.600612.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics
  • Gene Frequency*
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide*
  • Portugal / epidemiology
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics*

Substances

  • Pyruvate Kinase