A variant of RAG1 gene identified in severe combined immunodeficiency: a case report

BACKGROUND: The recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process. Mutations in RAG1 have been reported to be associated with several types of immune disorders. Typical clinical features driven by RAG1 variants include pe...

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Detalles Bibliográficos
Autores principales: Zhang, Xinping, Kang, Xiayan, Yang, Meiyu, Cai, Zili, Song, Yulei, Zhou, Xiong, Cao, Jianshe, Wang, Chengjuan, Huang, Kang, Peng, Yani, He, Jie, Xiao, Zhenghui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896705/
https://www.ncbi.nlm.nih.gov/pubmed/36732712
http://dx.doi.org/10.1186/s12887-022-03822-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896705/
https://www.ncbi.nlm.nih.gov/pubmed/36732712
http://dx.doi.org/10.1186/s12887-022-03822-0

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