Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
编码 COPII 机制组成部分的 SEC24D 基因突变会导致成骨不全综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.01.002
Garbes, Lutz; Kim, Kyungho; Rieß, Angelika; Hoyer-Kuhn, Heike; Beleggia, Filippo; Bevot, Andrea; Kim, Mi Jeong; Huh, Yang Hoon; Kweon, Hee-Seok; Savarirayan, Ravi; Amor, David; Kakadia, Purvi M; Lindig, Tobias; Kagan, Karl Oliver; Becker, Jutta; Boyadjiev, Simeon A; Wollnik, Bernd; Semler, Oliver; Bohlander, Stefan K; Kim, Jinoh; Netzer, Christian