一种深度内含子突变通过一种不寻常的远端外显子激活机制导致RAD50缺乏。
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.
作者信息
Bousset Kristine, Donega Stefano, Ameziane Najim, Fleischhammer Tabea, Ramachandran Dhanya, Poley-Gil Miriam, Schindler Detlev, van de Laar Ingrid M, Pagani Franco, Dörk Thilo
机构信息
Gynecology Research Unit, Hannover Medical School, Hannover, Germany.
International Centre for Genetic Engineering and Biotechnology, Trieste, Italy, and Intramural Research Program of National Institute on Aging, NIH, Baltimore, Maryland, USA.
出版信息
J Clin Invest. 2024 Dec 12;135(3):e178528. doi: 10.1172/JCI178528.
Abstract
This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.
摘要
本研究鉴定并表征了一种新型剪接突变，该突变存在于一种罕见的遗传性疾病——RAD50缺陷症中。
Zotero 插件