A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report
Abstract Background Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the...
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Main Authors: | , , , , , , , , , |
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Format: | Book |
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BMC,
2018-07-01T00:00:00Z.
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A1234.567 |
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