A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia

J Med Genet. 1995 Jan;32(1):77-8. doi: 10.1136/jmg.32.1.77.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / enzymology
  • Agammaglobulinemia / genetics*
  • Base Sequence
  • Child
  • DNA Primers
  • Humans
  • Leucine / genetics
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenylalanine / genetics
  • Point Mutation*
  • Protein-Tyrosine Kinases / genetics*
  • Sex Chromosome Aberrations
  • X Chromosome

Substances

  • DNA Primers
  • Phenylalanine
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human
  • Leucine