Martin A Mensah1,2,3, Henri Niskanen4, Alexandre P Magalhaes4

  • 1Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.

Nature
|February 9, 2023
PubMed
まとめ

本質的に無秩序なタンパク質領域の遺伝的変異は 核細胞のような生物分子凝縮体を 破壊する可能性があります この研究は,タンパク質相分離を変化させ,核機能障害を引き起こすことで,特定の変異を希少症候群と関連付けています.

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