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

Abstract Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caused by POLR3A mutation. The proband (IV6) in this f...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	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
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Nature Portfolio 2024-04-01
سلاسل:	Scientific Reports
الموضوعات:	POLR3-related hypomyelinating leukodystrophy POLR3A gene HLD-7 RNA polymerase III (Pol III) Myelination
الوصول للمادة أونلاين:	https://doi.org/10.1038/s41598-024-58452-6
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!