成人噬血细胞性淋巴组织细胞增生症种系变异的鉴定
Identification of germline variants in adults with hemophagocytic lymphohistiocytosis.
作者信息
Miller Peter G, Niroula Abhishek, Ceremsak John J, Gibson Christopher J, Taylor Martin S, Birndt Sebastian, Perner Florian, Arnason Jon, Sperling Adam S, Agrawal Mridul, Schram Alison M, Nikiforow Sarah, Pihan German, Hasserjian Robert P, Aster Jon C, La Rosée Paul, Morgan Elizabeth A, Berliner Nancy, Ebert Benjamin L
机构信息
Department of Medical Oncology, Dana-Farber Cancer Institute, and.
Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
出版信息
Blood Adv. 2020 Mar 10;4(5):925-929. doi: 10.1182/bloodadvances.2019001272.
Abstract
Some germline variants are predicted to disrupt protein function in HLH-associated genes. Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.
摘要
一些种系变体预计会破坏HLH相关基因中的蛋白质功能。这些变体在成人发病的HLH中既不富集，也与HLH的特定临床或实验室特征无关。
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