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IVS6+5G > A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family
- Authors
- Yoon, Seong-Ho; Cho, Taeshik; Kim, Hee-Jin; Kim, Sun-Young; Ko, Jeong-Hee; Baek, Hey-Sung; Lee, Hyun-Ju; Lee, Chul-Hoon
- Issue Date
- Feb-2012
- Publisher
- John Wiley & Sons Inc.
- Keywords
- mutation; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome protein; X-linked thrombocytopenia
- Citation
- Pediatric Blood and Cancer, v.58, no.2, pp 297 - 299
- Pages
- 3
- Indexed
- SCI
SCIE
SCOPUS
- Journal Title
- Pediatric Blood and Cancer
- Volume
- 58
- Number
- 2
- Start Page
- 297
- End Page
- 299
- ISSN
- 1545-5009
1545-5017
- Abstract
- WiskottAldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by a mutation in the WAS gene on Xp11.22. We report two patients with IVS6+5G>A of WAS in a Korean family. The proband presented with classic WAS, whereas his maternal cousin had symptoms limited to XLT. Their mothers were proved to be carriers. The IVS6+5G>A mutation was reported to result in incomplete splicing of the donor site and typically associated with mild form of disease, XLT. Our observation of the intrafamilial variability of clinical manifestations of WAS further expands the genotypephenotype correlations and suggests the presence of modifying genetic factors. Pediatr Blood Cancer 2012; 58: 297299. (C) 2011 Wiley Periodicals, Inc.
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