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

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: Here we...

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Detalles Bibliográficos
Autores principales: Liu, Dongling, Hu, Xijiang, Jiang, Xiwen, Gao, Bo, Wan, Cheng, Chen, Changying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696762/
https://www.ncbi.nlm.nih.gov/pubmed/29157204
http://dx.doi.org/10.1186/s12881-017-0489-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696762/
https://www.ncbi.nlm.nih.gov/pubmed/29157204
http://dx.doi.org/10.1186/s12881-017-0489-1

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