Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
泛素连接酶 UBE3B 缺陷导致眼睑下垂-智力障碍综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.10.011
Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J Arends, Xavier Miró, Jacqueline K White, Julie Désir, Marc Abramowicz, Maria Lisa Dentici, Francesca Lepri, Kay Hofmann, Adi Har-Zahav, Edward Ryder, Natasha A Karp, Jeanne Estabel
