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  1. Article

    Open Access

    Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome

    Wiskott–Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the WAS protein (WASp) due to mutations in the WAS gene, and is generally characterized by microthrombo...

    **n Ji, Xuening Hou, **n Guo, Yifeng Sun, Futian Ma… in Orphanet Journal of Rare Diseases (2022)

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