Amplicon sequecing of a HLH-related mutation on SH2D1A
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https://www.ncbi.nlm.nih.gov/sra/SRP124825
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资源简介:
A 18 month old boy was found to have typical phenotype of lymphohistiocytosis syndrome including splenomegaly and hemophagocytosis in bone marrow, so amplicon sequencing targeting the HH-related genes were conducted. The result shows that a noevel pathogentic mutation in gene SH2D1A exists.
创建时间:
2019-11-02



