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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765212/ https://www.ncbi.nlm.nih.gov/pubmed/31576159 http://dx.doi.org/10.2147/JIR.S194098 |