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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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Detalles Bibliográficos
Publicado en:J Inflamm Res
Autor Principal: Ohmura, Koichiro
Formato: Artigo
Idioma:Inglês
Publicado: Dove 2019
Assuntos:
Acceso en liña: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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