Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

BACKGROUND: During the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double-strand DNA breaks are produced. Subsequently, these breaks are corrected by a complex system led by the non-homologous end-joining (NHEJ). Pathogenic variants in genes involved...

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Detalles Bibliográficos
Autores principales: Frizinsky, Shirly, Rechavi, Erez, Barel, Ortal, Lee, Yu Nee, Simon, Amos J., Lev, Atar, Stauber, Tali, Adam, Etai, Somech, Raz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363661/
https://www.ncbi.nlm.nih.gov/pubmed/35967585
http://dx.doi.org/10.3389/fped.2022.883173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363661/
https://www.ncbi.nlm.nih.gov/pubmed/35967585
http://dx.doi.org/10.3389/fped.2022.883173

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