Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype

Hum Mol Genet. 1995 Oct;4(10):1995-8. doi: 10.1093/hmg/4.10.1995.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Arginine*
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Codon / genetics
  • Frameshift Mutation*
  • Humans
  • Introns
  • Phenotype
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Proteins
  • Sequence Deletion*
  • Thrombocytopenia / genetics*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein
  • X Chromosome*

Substances

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