Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E
✍ Scribed by Cristina Fillat; Teresa Español; Marta Oset; Mirta Cavieres; Patricia dal Borgo; Xavier Estivill; Victor Volpini
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 13 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Detection method:
SSCA and DNA sequencing
Detection conditions:
SSCA in GeneGel Excel 12.5/24".(Pharmacia) gels in a GenePhor electrophoresis apparatus and silver staining.
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