Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11...

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Bibliographic Details
Main Authors: Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
UNC13D
Nonsense mutation
HLH
Amplicon sequencing
Molecular diagnosis
Online Access:http://link.springer.com/article/10.1186/s12881-018-0600-2

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