Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome
✍ Scribed by Nuria Andreu; Carmen Carreras; Félix Prieto; Xavier Estivill; Victor Volpini; Cristina Fillat
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 335 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1435-232X
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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
The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indi
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