A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin

Deregulation of folate and vitamin B12 (VB12) metabolism contributes to the risk of congenital heart defects (CHDs). Transcobalamin (TCN2) is essential for transporting VB12 from blood to cells as TCN2-bound VB12 (holo-TC) is the only form for somatic cellular uptake. In this study, we performed an...

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Detalles Bibliográficos
Autores principales: Li, Peiqiang, Huang, Lijuan, Zheng, Yufang, Pan, Xuedong, Peng, Rui, Jiang, Yueming, Finnell, Richard H., Li, Haijie, Qiao, Bin, Wang, Hong-Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589654/
https://www.ncbi.nlm.nih.gov/pubmed/28903415
http://dx.doi.org/10.18632/oncotarget.19377

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