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New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
Nuclear factor-κB essential modulator (NEMO), the regulatory subunit of the IκB kinase complex, is a critical component of the NF-κB pathway. Hypomorphic mutations in the X-linked human NEMO gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). All known X-linke...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
American Society of Hematology
2011
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3251327/ https://ncbi.nlm.nih.gov/pubmed/21622647 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-10-315234 |
| टैग : |
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