Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency

Br J Haematol. 2002 Sep;118(3):927-8.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Follow-Up Studies
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Pyruvate Kinase / deficiency*
  • RNA Splicing / genetics*
  • RNA, Messenger / genetics

Substances

  • RNA, Messenger
  • Pyruvate Kinase