STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

BACKGROUND: Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is c...

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書誌詳細
主要な著者: Cetica, Valentina, Santoro, Alessandra, Gilmour, Kimberly C, Sieni, Elena, Beutel, Karin, Pende, Daniela, Marcenaro, Stefania, Koch, Florian, Grieve, Samantha, Wheeler, Rachel, Zhao, Fang, zur Stadt, Udo, Griffiths, Gillian M, Aricò, Maurizio
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4115259/
https://ncbi.nlm.nih.gov/pubmed/20798128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.075341
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