Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference30 articles.
1. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia;Derry;Hum Mol Genet,1995
2. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus;Kolluri;Hum Mol Genet,1995
3. Scanning of the Wiskott- Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype;Kwan;Hum Mol Genet,1995
4. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene;Zhu;Blood,1995
5. Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with Wiskott-Aldrich syndrome;Greer;Hum Genet,1996
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1. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival;Blood;2024-06-13
2. A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene;European Journal of Haematology;2014-10-18
3. X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation;Blood Cells, Molecules, and Diseases;2013-08
4. Monozygotic Twin Pair Showing Discordant Phenotype for X-linked Thrombocytopenia and Wiskott–Aldrich Syndrome: a Role for Epigenetics?;Journal of Clinical Immunology;2011-06-28
5. A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome;International Journal of Hematology;2006-06-01
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