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Updated: Jul 7, 2025

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Published on: October 10, 2022

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一种与自闭症相关的新型UBLCP1突变影响了蛋白质酶调节/活动

Jihane Soueid1, Zeinab Hamze1, Joe Bedran1

  • 1Department of Biochemistry and Molecular Genetics, American university of Beirut, Beirut, Lebanon.

Translational psychiatry
|December 21, 2023
PubMed
概括

在黎巴嫩,一种与自闭症谱系障碍 (ASD) 相关的新型UBLCP1基因删除导致蛋白质酶活性增加. 这一发现为ASD病原体和潜在的治疗点提供了新的见解.

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