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  • Title: Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
    Author: Bourne HC, Weston S, Prasad M, Edkins E, Benson EM.
    Journal: Pathology; 2004 Jun; 36(3):262-4. PubMed ID: 15203732.
    Abstract:
    UNLABELLED: Mutations of the gene encoding the Wiskott-Aldrich syndrome protein (WASP) have been previously shown to be responsible for classical Wiskott-Aldrich syndrome (WAS), isolated X-linked thrombocytopenia (XLT) and severe congenital X-linked neutropenia. AIMS: Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT. METHODS: Mutation analysis was performed by PCR and sequence analysis. RESULTS AND CONCLUSIONS: Two novel mutations and seven mutations which have previously been reported were identified. The novel mutations consisted of a missense mutation in exon 2 (C290A) associated with the phenotype of XLT and a mutation in intron 10 (1372+1G>A) in the mother of two boys presenting with a classical WAS phenotype.
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