Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia
TAPT1 基因缺陷会破坏纤毛发生并导致复杂的致命骨软骨发育不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.08.009
Sofie Symoens, Aileen M Barnes, Charlotte Gistelinck, Fransiska Malfait, Brecht Guillemyn, Wouter Steyaert, Delfien Syx, Sanne D'hondt, Martine Biervliet, Julie De Backer, Eckhard P Witten, Sergey Leikin, Elena Makareeva, Gabriele Gillessen-Kaesbach, Ann Huysseune, Kris Vleminckx, Andy Willaert, Ann