A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes

Blood. 1998 Jul 15;92(2):699-701.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • Exons / genetics
  • Frameshift Mutation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Proteins / genetics*
  • Sequence Analysis
  • Sequence Deletion*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein

Substances

  • Proteins
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein