OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
OFD1 在 X 连锁 Joubert 综合征中发生突变，并与 LCA5 编码的 lebercilin 相互作用
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.09.002
Karlien L M Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y Kroes, Stef J F Letteboer, Lock H Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A Veltman, Mireille Boink, Tjitske Kleefstra, Frans P M Cremers, Hans van Bokhoven, Arjan
