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

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 and STX...

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Detalles Bibliográficos
Autores principales: Hu, Xijiang, Liu, Dongling, Jiang, Xiwen, Gao, Bo, Chen, Changying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963187/
https://www.ncbi.nlm.nih.gov/pubmed/29783935
http://dx.doi.org/10.1186/s12881-018-0600-2

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