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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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |