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Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome

✍ Scribed by Ta-i Ariga; Masafumi Yamada; Florecita R. Padua; Yukio Sakiyama

Book ID
117618172
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
225 KB
Volume
1317
Category
Article
ISSN
0925-4439

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Characterization of a deletion mutation
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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

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Wiskott-Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism caused by reversions or second-site mutations has been reported in some inherited disorders including WAS. In this article, we describe somatic mosaicism in a 15-year-old WAS p