Das proteasom-assoziiertes Autoinflammations-Syndrom 1 ist eine autosomal rezessive oder digenische Erkrankung, die durch Mutationen im PSMB8-Gen ausgelöst wird.
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Agarwal AK et. al. (2010) PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. |
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