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Updated: Jul 25, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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N-终端乙转移酶NAA30的无意义变异可能与全球发育迟缓和气管裂相关

Sylvia Varland1,2, Kirsten Marie Brønstad1, Stephanie J Skinner3

  • 1Department of Biomedicine, University of Bergen, Bergen, Norway.

American journal of medical genetics. Part A
|June 30, 2023
PubMed
概括

一种NAA30的遗传变异破坏了N-终端乙化,这是细胞中的一个关键过程. 这种缺陷与年轻男孩的发育迟缓和其他健康问题有关,扩大了罕见遗传疾病已知的原因.

关键词:
在N端的乙化.在N端的乙转移酶中.NAA30 NAA30 没有美国 NatC NatC自闭症谱系障碍 自闭症谱系障碍全球发展延迟

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