Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

BACKGROUND: The endonuclease ARTEMIS, encoded by the DCLRE1C gene, is a component of the non-homologous end-joining (NHEJ) pathway, and participates in hairpin opening during the V(D)J recombination process and repair of a subset of DNA double strand breaks. Patients with ARTEMIS deficiency usually...

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Publicat a:J Allergy Clin Immunol
Autors principals: Felgentreff, Kerstin, Lee, Yu Nee, Frugoni, Francesco, Du, Likun, van der Burg, Mirjam, Giliani, Silvia, Tezcan, Ilhan, Reisli, Ismail, Mejstrikova, E, Villartay, JP, Sleckman, Barry P, Manis, John, Notarangelo, Luigi D
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4494888/
https://ncbi.nlm.nih.gov/pubmed/25917813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2015.03.005
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