Mutations in RNA Methyltransferase Gene NSUN5 Confer High Risk of Outflow Tract Malformation

NSUN5, encoding a cytosine-5 RNA methyltransferase and located in the 7q11.23 locus, is a candidate gene for tetralogy of Fallot (TOF). Deletion of the 7q11.23 locus in humans is linked to cardiac outflow tract (OFT) disorders including TOF. We identified four potential pathogenic mutations in the c...

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Detalles Bibliográficos
Autores principales: Wang, Yifeng, Jiang, Tao, Xu, Jiani, Gu, Yayun, Zhou, Yan, Lin, Yuan, Wu, Yifei, Li, Wei, Wang, Cheng, Shen, Bin, Mo, Xuming, Wang, Xiaowei, Zhou, Bin, Ding, Chenyue, Hu, Zhibin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097101/
https://www.ncbi.nlm.nih.gov/pubmed/33968922
http://dx.doi.org/10.3389/fcell.2021.623394

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