A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Joubert 综合征患者中一种新的纯合 ARL13B 变异会损害其鸟嘌呤核苷酸交换因子活性
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0031-0
Rafiullah Rafiullah, Long Alyssa B, Ivanova Anna A, Ali Hazrat, Berkel Simone, Mustafa Ghulam, Paramasivam Nagarajan, Schlesner Matthias, Wiemann Stefan, Wade Rebecca C, Bolthauser Eugen, Blum Martin, Kahn Richard A, Caspary Tamara, Rappold Gudrun A
