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Clinical Phenotype and Genetic Function Analysis of a Family with Hypomyelinating Leukodystrophy-7 Caused by POLR3A Mutation

Dan-dan Ruan,Xing-lin Ruan,Ruo-li Wang,Xin-fu Lin,Yan-ping Zhang,Bin Lin,Shi-jie Li,Min Wu,Qian Chen,Jian-hui Zhang,Qiong Cheng, Yi-wu Zhang,Fan Lin,Jie-wei Luo, Zheng,Yun-fei Li

Scientific Reports（2024）

Cited 1|Views27
Key words
POLR3-related hypomyelinating leukodystrophy,POLR3A gene,HLD-7,RNA polymerase III (Pol III),Myelination
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