A DNA-PKcs mutation in a radiosensitive T(–)B(–) SCID patient inhibits Artemis activation and nonhomologous end-joining

Radiosensitive T(–)B(–) severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs mis...

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Detalhes bibliográficos
Main Authors: van der Burg, Mirjam, IJspeert, Hanna, Verkaik, Nicole S., Turul, Tuba, Wiegant, Wouter W., Morotomi-Yano, Keiko, Mari, Pierre-Olivier, Tezcan, Ilhan, Chen, David J., Zdzienicka, Malgorzata Z., van Dongen, Jacques J.M., van Gent, Dik C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2613452/
https://ncbi.nlm.nih.gov/pubmed/19075392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI37141
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