Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia

N Engl J Med. 1994 May 26;330(21):1488-91. doi: 10.1056/NEJM199405263302104.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / enzymology
  • Agammaglobulinemia / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Cell Line, Transformed
  • Enzyme Stability / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein-Tyrosine Kinases / analysis
  • Protein-Tyrosine Kinases / chemistry
  • Protein-Tyrosine Kinases / genetics*
  • RNA, Messenger / analysis
  • X Chromosome

Substances

  • RNA, Messenger
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase