PMCID: PMC10627170.[3] Kluge A, Bunk J, Schaeffer E, Drobny A, Xiang W, Knacke H, Bub S, Lückstädt W
Nawrot, PhD1,2Author Affiliations Article InformationJAMA Netw Open. 2024;7(5):e2411246. doi:10
疾病杂志》https://cjobmr.cbpt.cnki.net/WKB2/WebPublication/paperDigest.aspx?paperID=dff93248-c7c8-4bc9-8e
累及成年男性,由位于X染色体上的UBA1基因突变所引起。其发病机制与UBA1中影响蛋氨酸-41 (p.Met41)的体细胞突变相关,UBA1是启动泛素化的主要E1酶。基因突变导致泛素化降低,并激活固有
PMC7290908.【6】. Thery C., Witwer K.W., Aikawa E., Alcaraz M.J., Anderson J.D., Andriantsitohaina R
http://www.sysush.com/content/a4fd49a3-c630-474b-8052-6385cd2e4dd7严乐平副研究员官网介绍http://www.sysush.com