Related Experiment Videos
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K Devriendt1, A S Kim, G Mathijs
1Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.
Nature Genetics
|March 10, 2001
Summary
A new disease, X-linked severe congenital neutropenia (XLN), is caused by a mutation in the Wiskott-Aldrich syndrome protein (WASP) gene. This mutation leads to constitutive activation of WASP, disrupting actin cytoskeleton regulation in hematopoietic cells.
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