A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.

Autor: Yang, Xinzhuang1,2 (AUTHOR), Zhang, Dingding1,2 (AUTHOR), Shen, Si3 (AUTHOR), Li, Pidong4 (AUTHOR), Li, Mengjie3 (AUTHOR), Niu, Jingwen1 (AUTHOR), Ma, Dongrui3 (AUTHOR), Xu, Dan1 (AUTHOR), Li, Shuangjie3 (AUTHOR), Guo, Xueyu4 (AUTHOR), Wang, Zhen5 (AUTHOR), Zhao, Yanhuan1 (AUTHOR), Ren, Haitao1 (AUTHOR), Ling, Chao6 (AUTHOR), Wang, Yang4 (AUTHOR), Fan, Yu3,7 (AUTHOR), Shen, Jianxiong5 (AUTHOR), Zhu, Yicheng1 (AUTHOR), Wang, Depeng4 (AUTHOR), Cui, Liying1 (AUTHOR)
Zdroj: BMC Medical Genomics. 10/20/2023, Vol. 16 Issue 1, p1-9. 9p.
Databáze: Academic Search Ultimate
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