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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Detalles Bibliográficos
Autores principales: Pan, Xingyu, Zhao, Jingrong, Zhou, Zhiying, Chen, Jijun, Yang, Zhenxing, Wu, Yuxuan, Bai, Meizhu, Jiao, Yang, Yang, Yun, Hu, Xuye, Cheng, Tianling, Lu, Qianyun, Wang, Bin, Li, Chang-Lin, Lu, Ying-Jin, Diao, Lei, Zhong, Yan-Qing, Pan, Jing, Zhu, Jianmin, Xiao, Hua-Sheng, Qiu, Zi-Long, Li, Jinsong, Wang, Zefeng, Hui, Jingyi, Bao, Lan, Zhang, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241442/
https://www.ncbi.nlm.nih.gov/pubmed/34184986
http://dx.doi.org/10.7554/eLife.63021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241442/
https://www.ncbi.nlm.nih.gov/pubmed/34184986
http://dx.doi.org/10.7554/eLife.63021

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