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- [2] A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis BMC MEDICAL GENETICS, 2017, 18
- [9] Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH BMC MEDICAL GENETICS, 2017, 18
- [10] Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report BMC MEDICAL GENETICS, 2018, 19