Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene
对印度南部某社区患有常染色体显性遗传性皮质震颤、肌阵挛和癫痫的患者进行基因组分析表明，SAMD12基因中存在创始人重复序列扩增突变。
期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcaa214
Mahadevan, Radha; Bhoyar, Rahul C; Viswanathan, Natarajan; Rajagopal, Raskin Erusan; Essaki, Bobby; Suroliya, Varun; Chelladurai, Rachel; Sankaralingam, Saravanan; Shanmugam, Ganesan; Vayanakkan, Sriramakrishnan; Shamim, Uzma; Mathur, Aradhana; Jain, Abhinav; Imran, Mohamed; Faruq, Mohammed; Scaria, Vinod; Sivasubbu, Sridhar; Kalyanaraman, Shantaraman
