Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3
Author:
Funder
JSPS KAKENHI
Ministry of Health
Publisher
Elsevier BV
Subject
Immunology,Immunology and Allergy
Reference19 articles.
1. Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning;Sieni;Front. Immunol.,2014
2. Hemophagocytic syndromes—an update;Janka;Blood Rev.,2014
3. Perforin gene defects in familial hemophagocytic lymphohistiocytosis;Stepp;Science,1999
4. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3);Feldmann;Cell,2003
5. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11;zur Stadt;Hum. Mol. Genet.,2005
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3;BMC Pediatrics;2024-01-11
2. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3;2023-03-24
3. Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3;Frontiers in Immunology;2022-11-23
4. Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3;Clinical Immunology;2022-09
5. Familial hemophagocytic lymphohistiocytosis in a neonate;Medicine;2021-11-24
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