A Novel Protocol to Identify Mutations in Patients with Wiskott–Aldrich Syndrome
✍ Scribed by L.N. Jones; M.I. Lutskiy; J. Cooley; D.M. Kenney; F.S. Rosen; E. Remold-O'Donnell
- Book ID
- 115590240
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 184 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1079-9796
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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
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