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Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate...

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Détails bibliographiques
Auteurs principaux: Lohr, Naomi J., Molleston, Jean P., Strauss, Kevin A., Torres-Martinez, Wilfredo, Sherman, Eric A., Squires, Robert H., Rider, Nicholas L., Chikwava, Kudakwashe R., Cummings, Oscar W., Morton, D. Holmes, Puffenberger, Erik G.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2010
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2833372/
https://ncbi.nlm.nih.gov/pubmed/20170897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.028
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