Associated Papers
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
Ji X et al.
Orphanet Journal of Rare Diseases, 2022
Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.
Sereni L et al.
The Journal of Allergy and Clinical Immunology, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.
Jain N et al.
Journal of Biomedical Science, 2014
25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.
Glembotsky AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Andreu N et al.
International Journal of Molecular Medicine, 2007
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
El-Hakeh J et al.
Human Mutation, 2002
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