Article
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
British journal of haematology - 1 Jun 2001
Qasim W, Gilmour K C, Heath S, Ashton E, Cranston T, Thomas A, Finn A, Davies E G, Thrasher A J, Kinnon C, Jones A, Gaspar H B
Abstract excerpt
Mutations in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) give rise to Wiskott-Aldrich syndrome (WAS), a condition that exhibits a wide spectrum of clinical severity. Patients may develop mild thrombocytopenia or suffer from a wide range of associated disorders including eczema, immune dysfunction, autoimmune disease and malignancy. The clinical diagnosis of Wiskott-Aldrich syndrome (WAS) can be...
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