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Updated: Jun 23, 2025

Characterization at the Molecular Level using Robust Biochemical Approaches of a New Kinase Protein
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Characterization at the Molecular Level using Robust Biochemical Approaches of a New Kinase Protein

Published on: June 30, 2019

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与Knobloch综合征2型相关的新型酶缺乏PAK2变异

Rhonda E Schnur1,2, Lukáš Dvořáček3, Louisa Kalsner4

  • 1Cooper Medical School of Rowan University, Camden, New Jersey, USA.

Clinical genetics
|June 19, 2024
PubMed
概括

一种新的p21激活酶2 (PAK2) 变体导致酶缺乏,将PAK2与第二种形式的自体主导诺布洛赫综合征 (KNO2) 联系起来. 这一发现促进了对影响细胞骨组织的遗传疾病的理解.

关键词:
在PAK2中使用PAK2.脑膜炎是什么意思 脑膜炎是什么视网膜脱落 视网膜脱落 视网膜脱落过早生育的视网膜病变

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