The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship

Blood. 1999 Aug 15;94(4):1488-90.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adult
  • CD40 Ligand
  • Child
  • Child, Preschool
  • Female
  • Genetic Linkage
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M / immunology*
  • Male
  • Membrane Glycoproteins / genetics*
  • Pedigree
  • Point Mutation*
  • X Chromosome*

Substances

  • Immunoglobulin M
  • Membrane Glycoproteins
  • CD40 Ligand