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Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients

X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is a primary immunodeficiency caused by loss-of-function variants in the MAGT1 gene. Only two patients from one family have been diagnosed with XMEN in China. In this study, we r...

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Detalles Bibliográficos
Autores principales: Peng, Xiaomin, Lu, Yi, Wang, Huijun, Wu, Bingbing, Gan, Mingyu, Xu, Suzhen, Zhuang, Deyi, Wang, Jianshe, Sun, Jinqiao, Wang, Xiaochuan, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821886/
https://www.ncbi.nlm.nih.gov/pubmed/35145548
http://dx.doi.org/10.3389/fgene.2022.768000