相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Yin Liu et al.
ARTHRITIS AND RHEUMATISM (2012)
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome: A Case Report
Yuval Ramot et al.
PEDIATRIC DERMATOLOGY (2011)
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
Kazuhiko Arima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Anil K. Agarwal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy
Abhimanyu Garg et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
Antonio Torrelo et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2010)
分享论文
