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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

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Year: 1995
Type: article
Study design: Observational Study
Source: Human Molecular Genetics
DOI: 10.1093/hmg/4.10.1995
Authors: Sau-Plng Kwan, Tracy L. Hagemann, R.Michael Blaese, Alan Knutsen, Fred S. Rosen
Institutions: Rush University Medical Center, Rush University, National Institutes of Health, National Human Genome Research Institute, Saint Louis University, Harvard University
Language: English

Topic: Immunodeficiency and Autoimmune Disorders
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Allergy and Infectious Diseases, National Center for Research Resources
Awards: G1553235150, G4841999302, MOLECULAR STUDIES OF WISKOTT ALDRICH SYNDROME, General Clinical Research Center, G6830587703
OpenAlex ID: W2020462341
FWCI: 1.432
Cites:
Cited by: 44
Related to: 10
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