5'-UTR SNP of FGF13 causes translational defect and intellectual disability

5'-UTR SNP of FGF13 causes translational defect and intellectual disability

The congenital intellectual disability (ID)-causing gene mutations remain largely unclear, although many genetic variations might relate to ID. We screened gene mutations in Chinese Han children suffering from severe ID and found a single-nucleotide polymorphism (SNP) in the 5′-untranslated region (...

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Bibliographic Details
Main Authors: Xingyu Pan, Jingrong Zhao, Zhiying Zhou, Jijun Chen, Zhenxing Yang, Yuxuan Wu, Meizhu Bai, Yang Jiao, Yun Yang, Xuye Hu, Tianling Cheng, Qianyun Lu, Bin Wang, Chang-Lin Li, Ying-Jin Lu, Lei Diao, Yan-Qing Zhong, Jing Pan, Jianmin Zhu, Hua-Sheng Xiao, Zi-Long Qiu, Jinsong Li, Zefeng Wang, Jingyi Hui, Lan Bao, Xu Zhang
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-06-01
Series:eLife
Subjects:
Intellectual disability
fibroblast growth factor 13
single-nucleotide polymorphism
5'-untranslated region
protein translation
polypyrimidine-tract-binding protein 2
Online Access:https://elifesciences.org/articles/63021

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https://elifesciences.org/articles/63021

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