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    Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

    X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been ident...

    **aodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yong** Song in BMC Medical Genetics (2018)

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