剪接
寡核苷酸
遗传学
生物
RNA剪接
内含子
医学
基因
癌症研究
核糖核酸
作者
Sebastian Ochoa,Amy P. Hsu,Andrew J. Oler,Dhaneshwar Kumar,Daniel Chauss,Jan Piet van Hamburg,Gustaaf G. van Laar,Vasileios Oikonomou,Sundar Ganesan,Elise M. N. Ferré,Monica M. Schmitt,Tom DiMaggio,Princess Barber,Gregory Constantine,Lindsey B. Rosen,Paul G. Auwaerter,Bhumika Gandhi,Jennifer L. Miller,Rachel Eisenberg,Arye Rubinstein
标识
DOI：10.1126/scitranslmed.adk0845
摘要
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator (
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