Associated Papers
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Stem-cell gene therapy for the Wiskott-Aldrich syndrome.
Boztug K et al.
The New England Journal of Medicine, 2010
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Albert MH et al.
Blood, 2010
Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.
Dewey RA et al.
Experimental Hematology, 2006
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Bourne HC et al.
Pathology, 2004
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
Ho LL et al.
British Journal of Haematology, 2001
Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins.
Huang MM et al.
Gene Therapy, 2000
WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction.
Shcherbina A et al.
Journal of Immunology (baltimore, Md. : 1950), 1999
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
Zhu Q et al.
Blood, 1997
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D et al.
Human Genetics, 1996
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