Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Autor: Ruan, Dan-dan1 (AUTHOR), Ruan, Xing-lin2 (AUTHOR), Wang, Ruo‑li1,3 (AUTHOR), Lin, Xin-fu1,4 (AUTHOR), Zhang, Yan-ping1 (AUTHOR), Lin, Bin1 (AUTHOR), Li, Shi-jie1 (AUTHOR), Wu, Min1 (AUTHOR), Chen, Qian1 (AUTHOR), Zhang, Jian-hui1 (AUTHOR), Cheng, Qiong1,5 (AUTHOR), Zhang, Yi-wu6 (AUTHOR), Lin, Fan1,7 (AUTHOR) linfan@fjmu.edu.cn, Luo, Jie-wei1 (AUTHOR) docluo0421@aliyun.com, Zheng, Zheng1,5 (AUTHOR) zz128cy@163.com, Li, Yun-fei1,5 (AUTHOR) lyfd02068@163.com
Zdroj: Scientific Reports. 9/10/2024, Vol. 14 Issue 1, p1-14. 14p.
Databáze: Academic Search Ultimate
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