Article
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
Human molecular genetics - 1 Jul 1995
Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah A M, Teichert-Kuliszewska K, Weissman S M, Siminovitch K A
Abstract excerpt
Mutation in the gene encoding the recently isolated WASP protein has now been identified as the genetic defect responsible for the X-linked Wiskott-Aldrich syndrome (WAS), a primary immunodeficiency disease associated with extensive phenotypic variability. To elucidate the range of WASP mutations responsible for WAS, we used PCR-SSCP analysis to screen for WASP gene mutation in 19 unrelated boys with the...
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