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Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) in different ethnicities has been described in the literature, but few cases in patients of Chinese descent have been reported. Here, we describe the case of a Chinese neonate presenting with HLH carrying novel, compound heterozygous mutations of the UNC13D g...

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Detalles Bibliográficos
Autores principales: Chen, Yuanyuan, Wang, Zhujun, Cheng, Yuping, Tang, Yongmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663248/
https://www.ncbi.nlm.nih.gov/pubmed/23709445
http://dx.doi.org/10.3349/ymj.2013.54.4.1053