An immunocompetent patient with a nonsense mutation in NHEJ1 gene

BACKGROUND: DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryote...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: Esmaeilzadeh, Hossein, Bordbar, Mohammad Reza, Hojaji, Zahra, Habibzadeh, Parham, Afshinfar, Dorna, Miryounesi, Mohammad, Fardaei, Majid, Faghihi, Mohammad Ali
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2019
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6429708/
https://ncbi.nlm.nih.gov/pubmed/30898087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0784-0
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