A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.

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A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.

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A homozygous mutation in the P ...... ted autoinflammatory syndrome.

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A homozygous mutation in the P ...... ted autoinflammatory syndrome.

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A homozygous mutation in the P ...... ted autoinflammatory syndrome.

@en

A homozygous mutation in the P ...... ted autoinflammatory syndrome.

@nl

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A homozygous mutation in the P ...... ted autoinflammatory syndrome.

@en

A homozygous mutation in the P ...... ted autoinflammatory syndrome.

@nl

P1476

A homozygous mutation in the P ...... ated autoinflammatory syndrome

@en

P2093

A Cárdenas-Conejo

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A Rodríguez-Velasco

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C Contreras-Cubas

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L Orozco

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V Baca

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P2860

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

P304

251-254

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scholarly article

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10.1080/03009742.2017.1342273

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P433

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P478

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Humberto García-Ortiz

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2017-09-12T00:00:00Z

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P698

28895430

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