Article
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
Blood cells, molecules & diseases - 1 Jan 2000
Proust Alexis, Guillet Benoît, Picard Capucine, de Saint Basile Geneviève, Pondarré Corinne, Tamary Hannah, Dreyfus Marie, Tchernia Gil, Fischer Alain, Delaunay Jean
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder including microthrombocytopenia, eczema and immunodeficiency. A mild form is known as the X-linked thrombocytopenia (XLT). We screened 150 individuals or families based on a multiplex PCR method. We found 28 novel mutations (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions). The method relied on the...
Topics
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- France
- Genetic Diseases, X-Linked
- Genotype
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Thrombocytopenia
- Wiskott-Aldrich Syndrome
- Wiskott-Aldrich Syndrome Protein