Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome

Autor: Shen, Ming, Yang, Guangming, Chen, Zhehui, Yang, Kai, Dong, Hui, Yin, Chengliang, Cheng, Yuxuan, Zhang, Chunyan, Gu, Fangyan, Yang, Yanling, Tian, Yaping
Zdroj: In Clinica Chimica Acta 1 July 2022 532:29-36
Databáze: ScienceDirect