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
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
✍ Scribed by Fillat, Cristina ;Espa�ol, Teresa ;Oset, Marta ;Ferrando, Montse ;Estivill, Xavier ;Volpini, Victor
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 104 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0148-7299
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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
Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied 1) with prometaphase G banding to search for minor chromosome anomalies and 2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to hav
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