https://scholars.lib.ntu.edu.tw/handle/123456789/597061
標題: | UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis | 作者: | Liao, Chun-Hua NI-CHUNG LEE SHIANN-TANG JOU BOR-LUEN CHIANG HSIN-HUI YU |
關鍵字: | Familial hemophagocytic lymphohistiocytosis; Munc13-4; UNC13D | 公開日期: | 十二月-2020 | 出版社: | ELSEVIER TAIWAN | 卷: | 53 | 期: | 6 | 起(迄)頁: | 1039 | 來源出版物: | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/597061 | ISSN: | 1684-1182 | DOI: | 10.1016/j.jmii.2020.04.001 | SDG/關鍵字: | corticosteroid; cyclosporine; etoposide; immunoglobulin; membrane protein; UNC13D protein, human; case report; child; clinical article; computer assisted tomography; controlled study; disease activity; female; frameshift mutation; gene; gene mutation; hemophagocytic syndrome; human; human tissue; Letter; lymph node biopsy; nuclear magnetic resonance imaging; peripheral blood mononuclear cell; preschool child; recurrent disease; Sanger sequencing; spleen biopsy; unc13d gene; whole exome sequencing; diagnostic imaging; genetics; hemophagocytic syndrome; infant; male; metabolism; mutation; nucleotide sequence; Base Sequence; Child, Preschool; Female; Humans; Infant; Lymphohistiocytosis, Hemophagocytic; Male; Membrane Proteins; Mutation |
顯示於: | 醫學系 |
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