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Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
Nakajo–Nishimura syndrome (NNS) is a rare hereditary autoinflammatory disorder with lipodystrophy. This disease is caused by a homozygous mutation of PSMB8 gene, which encodes immunoproteasome subunit β5i. Phenotypes of NNS patients are periodic fever, pernio-like rash, nodular erythema-like eruptio...
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| Publicado en: | J Inflamm Res |
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| Autor principal: | |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Dove
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6765212/ https://ncbi.nlm.nih.gov/pubmed/31576159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/JIR.S194098 |
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