C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome

Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • CD40 Ligand
  • Child
  • DNA / blood
  • DNA Mutational Analysis
  • DNA Primers
  • Female
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M / genetics*
  • Male
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Polymerase Chain Reaction

Substances

  • DNA Primers
  • Immunoglobulin M
  • Membrane Glycoproteins
  • CD40 Ligand
  • DNA

Grants and funding