Article
Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
Clinical immunology and immunopathology - 1 Jul 1998
MacCarthy-Morrogh L, Gaspar H B, Wang Y C, Katz F, Thompson L, Layton M, Jones A M, Kinnon C
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency that is usually associated with thrombocytopenia and eczema. The very variable phenotype of WAS results from defects in the WAS protein (WASP), the function of which is not well understood. In many cases causative mutations ha...
Topics
- Base Sequence
- Case-Control Studies
- Cell Line, Transformed
- DNA Mutational Analysis
- DNA Primers
- Gene Expression
- Genetic Variation
- Humans
- Immunoblotting
- Male
- Mutation
- Phenotype