A Cohort Study on Deficiency of ADA2 from China

PURPOSE: Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. We aim to further characterize DADA2 cases in China....

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Detalles Bibliográficos
Autores principales: Li, Guo-min, Han, Xu, Wu, Ye, Wang, Wei, Tang, Hong-xia, Lu, Mei-ping, Tang, Xue-mei, Lin, Yi, Deng, Fan, Yang, Jun, Wang, Xin-ning, Liu, Cong-cong, Zheng, Wen-jie, Wu, Bing-bing, Zhou, Fang, Luo, Hong, Zhang, Liang, Liu, Hai-mei, Guan, Wan-zhen, Wang, Shi-hao, Tao, Pan-feng, Jin, Tai-jie, Fang, Ran, Wu, Yuan, Zhang, Jie, Zhang, Yao, Zhang, Tian-nan, Yin, Wei, Guo, Li, Tang, Wen-jing, Chang, Hong, Zhang, Qiu-ye, Li, Xiao-zhong, Li, Jian-guo, Zhou, Zhi-xuan, Yang, Si-rui, Yang, Kang-kang, Xu, Hong, Song, Hong-mei, Deuitch, Natalie T., Lee, Pui Y., Zhou, Qing, Sun, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110724/
https://www.ncbi.nlm.nih.gov/pubmed/36807221
http://dx.doi.org/10.1007/s10875-023-01432-8

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