Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
β Scribed by Suo-Bao Rong; Mauno Vihinen
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 348 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0946-2716
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A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud
Wiskott-Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism caused by reversions or second-site mutations has been reported in some inherited disorders including WAS. In this article, we describe somatic mosaicism in a 15-year-old WAS p
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