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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...

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Kaydedildi:
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Portfolio 2024-04-01
Seri Bilgileri:Scientific Reports
Konular:
POLR3-related hypomyelinating leukodystrophy
POLR3A gene
HLD-7
RNA polymerase III (Pol III)
Myelination
Online Erişim:https://doi.org/10.1038/s41598-024-58452-6
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