- A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
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Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK
- KMID: 1785760
- J Korean Med Sci.
- 2007 Dec;22(6):998-1001.
- doi: 10.3346/jkms.2007.22.6.998
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene.... -
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- Phenotypic and Genotypic Correction of WASP Gene Mutation in Wiskott-Aldrich Syndrome by Unrelated Cord Blood Stem Cell Transplantation
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Lee YH, Lim YJ, Shin SA, Song CH, Jo EK, Jung JA, Lee HB
- KMID: 1779216
- J Korean Med Sci.
- 2009 Aug;24(4):751-754.
- doi: 10.3346/jkms.2009.24.4.751
We present two cases of Wiskott-Aldrich syndrome (WAS), in which nonsense mutations in the WASP gene were corrected phenotypically as well as genotypically by unrelated cord blood stem cell transplantation... -
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