Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
甘氨酸转运蛋白1的缺失会导致一种伴有关节挛缩和脑脊液甘氨酸轻度升高的甘氨酸脑病亚型。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.004
Kurolap, Alina; Armbruster, Anja; Hershkovitz, Tova; Hauf, Katharina; Mory, Adi; Paperna, Tamar; Hannappel, Ewald; Tal, Galit; Nijem, Yusif; Sella, Ella; Mahajnah, Muhammad; Ilivitzki, Anat; Hershkovitz, Dov; Ekhilevitch, Nina; Mandel, Hanna; Eulenburg, Volker; Baris, Hagit N