A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene
Abstract Background Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermitte...
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| フォーマット: | 図書 |
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BMC,
2020-06-01T00:00:00Z.
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| 請求記号: |
A1234.567 |
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| 所蔵 1 | 利用可 |