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Updated: May 14, 2025

A High-Throughput Enzyme-Coupled Activity Assay to Probe Small Molecule Interaction with the dNTPase SAMHD1
08:17

A High-Throughput Enzyme-Coupled Activity Assay to Probe Small Molecule Interaction with the dNTPase SAMHD1

Published on: April 16, 2021

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与致病性RNASEH2B和SAMHD1变种相关的新表型

Ghada M H Abdel-Salam1, Maha Eid2, Manar A El-Serafy1

  • 1Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
|April 30, 2025
PubMed
概括

艾卡迪-古提耶氏综合征 (AGS) 与影响天生的免疫反应的遗传变异有关. 这项研究发现了新的超神经症状,以及SAMHD1变种与甲状腺功能低下症之间的新相关性,扩大了AGS表型.

关键词:
在RNASEH2B中使用.在SAMHD1中,我们可以使用SAMHD1.艾卡迪 古提耶尔综合征 艾卡迪 古提耶尔综合征甲状腺过敏症 (hypoparathyroidism) 是一种严重的疾病.新的现象型新现象型渐进式的化过程.

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