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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant by Ruo-li Wang, Ruo-li Wang, Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Xin-fu Lin, Zhu-ting Fang, Zhu-ting Fang, Li-sheng Liao, Li-sheng Liao, Fa-qiang Tang, Fa-qiang Tang, Wu-bing He, Wu-bing He, Wu-bing He, Jie-wei Luo, Jie-wei Luo
Published 2022-05-01
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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation by 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 Zheng, Yun-fei Li
Published 2024-04-01
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