A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

被引：0

作者：

Marija Kojic

Nour E. H. Abbassi

Ting-Yu Lin

Alun Jones

Emma L. Wakeling

Emma Clement

Vasiliki Nakou

Matthew Singleton

Dominika Dobosz

Marios Kaliakatsos

Sebastian Glatt

Brandon J. Wainwright

机构：

[1] The University of Queensland,Frazer Institute

[2] Jagiellonian University,Malopolska Centre of Biotechnology

[3] Medical University of Warsaw,Postgraduate School of Molecular Medicine

[4] The University of Queensland,Institute for Molecular Bioscience

[5] Great Ormond Street Hospital for Children NHS Foundation Trust,North East Thames Regional Genetic Service

[6] Great Ormond Street Hospital for Children NHS Foundation Trust/ University College London,Paediatric Neurology

来源：

Journal of Human Genetics | 2023年 / 68卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：445 / 453

页数：8

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