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Mutated STAMBP activates MIC-CAP. 2 / 2

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"Elevated ubiquitin-conjugated protein aggregation and apoptosis activation has previously been identified in lymphoblastoid cell lines from patients with MIC-CAP caused by STAMBP mutations."

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"To the best of our knowledge, the present study reported the case of the first Chinese patient with MIC-CAP syndrome caused by a novel compound heterozygous STAMBP mutation."

31638258

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IndraLab

Statements

Mutated STAMBP activates MIC-CAP. 2 / 2

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