Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases. Case presentation H...

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Bibliographic Details
Main Authors: Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan, Changying Chen
Format: Article
Language:English
Published: BMC 2017-11-01
Series:BMC Medical Genetics
Subjects:
HLH
UNC13D
Splicing mutation
Amplicon sequencing
Genetic analysis
Online Access:http://link.springer.com/article/10.1186/s12881-017-0489-1

Internet

http://link.springer.com/article/10.1186/s12881-017-0489-1

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