PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in Paroxysmal Kinesigenic Dyskinesia

A heterozygous frameshift PRRT2 mutation (c.649_650InsC) has been identified as the major causative mutation in several paroxysmal disorders, including paroxysmal kinesigenic dyskinesia (PKD). Since PKD is an autosomal dominant disorder and since the frameshift mutations of PRRT2 may create a trunca...

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Detaylı Bibliyografya
Yayımlandı:Biochem Biophys Res Commun
Asıl Yazarlar: Pan, Yongcheng, Liu, Qiong, Zhang, Jennifer, Yang, Yang, Tian, Yun, Zeng, Junsheng, Yin, Peng, Mei, Lin, Xiong, Wen-cheng, Li, Xiao-Jiang, Li, Shihua, Tang, Beisha
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6981028/
https://ncbi.nlm.nih.gov/pubmed/31785815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2019.11.025
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