Point mutation in intron 11 of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia

Pediatr Int. 2000 Dec;42(6):689-92. doi: 10.1046/j.1442-200x.2000.01293.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • Child, Preschool
  • DNA, Complementary / analysis
  • Genetic Linkage*
  • Humans
  • Introns / genetics
  • Male
  • Point Mutation*
  • Protein-Tyrosine Kinases / genetics*
  • Protein-Tyrosine Kinases / metabolism
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • X Chromosome*

Substances

  • DNA, Complementary
  • RNA-Binding Proteins
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase