Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report
Author:
Funder
Key Research Projects of Henan Provincial Department of Education
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0600-2.pdf
Reference14 articles.
1. Bell RJ, Brafield AJ, Barnes ND, France NE. Familial Haemophagocytic Reticulosis. Arch Dis Child. 1952;27(136):519–25.
2. Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology. 2009;2009(1):127–31.
3. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med. 2012;63(1):233–46.
4. Mehta RS, Smith RE. Hemophagocytic lymphohistiocytosis (HLH): a review of literature. Med Oncol. 2013;30(4):740.
5. Henter J, Elinder G, Soder O, Ost A. Incidence in Sweden and clinical features of familial Hemophagocytic Lymphohistiocytosis. Acta Paediatr. 1991;80(4):428–35.
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